PRO Term |
GO Annotation |
Evidence |
PR:000000317 hACVRL1/var:G48R UniProtKB:P37023, Gly-48, CHEBI:29952 | serine/threonine-protein kinase receptor R3 sequence variant 1 (human) "A serine/threonine-protein kinase receptor R3 (human) that has an Arg residue at the position equivalent to Gly-48 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, Gly-48, CHEBI:29952." [PMID:15024723, PRO:CNA, PRO:DAN] |
associated_with_disease_progression | DO:1270 hereditary hemorrhagic telangiectasia |
PMID:15024723 |
PR:000000318 hACVRL1/var:E215K UniProtKB:P37023, Glu-215, CHEBI:29967 | serine/threonine-protein kinase receptor R3 sequence variant 10 (human) "A serine/threonine-protein kinase receptor R3 (human) that has a Lys residue at the position equivalent to Glu-215 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, Glu-215, CHEBI:29967." [PMID:15024723, PRO:CNA, PRO:DAN] |
associated_with_disease_progression | DO:1270 hereditary hemorrhagic telangiectasia |
PMID:15024723 |
PR:000000319 hACVRL1/var:H222del UniProtKB:P37023, 22-221, 223-503 | serine/threonine-protein kinase receptor R3 sequence variant 11 (human) "A serine/threonine-protein kinase receptor R3 (human) that has a single-residue deletion at the position equivalent to His-222 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, 22-221, 223-503." [PRO:CNA, PRO:DAN] |
associated_with_disease_progression | DO:1270 hereditary hemorrhagic telangiectasia |
UniProtKB_VAR:VAR_006209 |
located_in | GO:0005886 plasma membrane |
PMID:14684682 |
PR:000000320 hACVRL1/var:S233del UniProtKB:P37023, 22-232, 234-503 | serine/threonine-protein kinase receptor R3 sequence variant 12 (human) "A serine/threonine-protein kinase receptor R3 (human) that has a single-residue deletion at the position equivalent to Ser-233 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, 22-232, 234-503." [PRO:CNA, PRO:DAN] |
associated_with_disease_progression | DO:1270 hereditary hemorrhagic telangiectasia |
UniProtKB_VAR:VAR_026792 |
PR:000000321 hACVRL1/var:G223R UniProtKB:P37023, Gly-223, CHEBI:29952 | serine/threonine-protein kinase receptor R3 sequence variant 13 (human) "A serine/threonine-protein kinase receptor R3 (human) that has an Arg residue at the position equivalent to Gly-223 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, Gly-223, CHEBI:29952." [PMID:15024723, PRO:CNA, PRO:DAN] |
associated_with_disease_progression | DO:1270 hereditary hemorrhagic telangiectasia |
PMID:15024723 |
PR:000000322 hACVRL1/var:K229R UniProtKB:P37023, Lys-229, CHEBI:29952 | serine/threonine-protein kinase receptor R3 sequence variant 14 (human) "A serine/threonine-protein kinase receptor R3 (human) that has an Arg residue at the position equivalent to Lys-229 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, Lys-229, CHEBI:29952." [PMID:15024723, PRO:CNA, PRO:DAN] |
associated_with_disease_progression | DO:1270 hereditary hemorrhagic telangiectasia |
PMID:15024723 |
PR:000000323 hACVRL1/var:D254del UniProtKB:P37023, 22-253, 255-503 | serine/threonine-protein kinase receptor R3 sequence variant 15 (human) "A serine/threonine-protein kinase receptor R3 (human) that has a single-residue deletion at the position equivalent to Asp-254 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, 22-253, 255-503." [PRO:CNA, PRO:DAN] |
associated_with_disease_progression | DO:1270 hereditary hemorrhagic telangiectasia |
UniProtKB_VAR:VAR_026793 |
enables | NOT GO:0004675 transmembrane receptor protein serine/threonine kinase activity |
PMID:14684682 |
located_in | GO:0005783 endoplasmic reticulum |
PMID:14684682 |
PR:000000324 hACVRL1/var:M376V UniProtKB:P37023, Met-376, CHEBI:30015 | serine/threonine-protein kinase receptor R3 sequence variant 16 (human) "A serine/threonine-protein kinase receptor R3 (human) that has a Val residue at the position equivalent to Met-376 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, Met-376, CHEBI:30015." [PMID:15024723, PRO:CNA, PRO:DAN] |
associated_with_disease_progression | DO:1270 hereditary hemorrhagic telangiectasia |
PMID:15024723 |
PR:000000325 hACVRL1/var:L285F UniProtKB:P37023, Leu-285, CHEBI:29997 | serine/threonine-protein kinase receptor R3 sequence variant 17 (human) "A serine/threonine-protein kinase receptor R3 (human) that has a Phe residue at the position equivalent to Leu-285 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, Leu-285, CHEBI:29997." [PMID:15024723, PRO:CNA, PRO:DAN] |
associated_with_disease_progression | DO:1270 hereditary hemorrhagic telangiectasia |
PMID:15024723 |
PR:000000326 hACVRL1/var:A306P UniProtKB:P37023, Ala-306, CHEBI:50342 | serine/threonine-protein kinase receptor R3 sequence variant 18 (human) "A serine/threonine-protein kinase receptor R3 (human) that has a Pro residue at the position equivalent to Ala-306 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, Ala-306, CHEBI:50342." [PMID:15024723, PRO:CNA, PRO:DAN] |
associated_with_disease_progression | DO:1270 hereditary hemorrhagic telangiectasia |
PMID:15024723 |
PR:000000327 hACVRL1/var:H314Y UniProtKB:P37023, His-314, CHEBI:46858 | serine/threonine-protein kinase receptor R3 sequence variant 19 (human) "A serine/threonine-protein kinase receptor R3 (human) that has a Tyr residue at the position equivalent to His-314 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, His-314, CHEBI:46858." [PMID:15024723, PRO:CNA, PRO:DAN] |
associated_with_disease_progression | DO:1270 hereditary hemorrhagic telangiectasia |
PMID:15024723 |
PR:000000328 hACVRL1/var:W50C UniProtKB:P37023, Trp-50, CHEBI:29950 | serine/threonine-protein kinase receptor R3 sequence variant 2 (human) "A serine/threonine-protein kinase receptor R3 (human) that has a Cys residue at the position equivalent to Trp-50 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, Trp-50, CHEBI:29950." [PMID:10767348, PMID:14684682, PMID:9245985, PRO:CNA, PRO:DAN] |
associated_with_disease_progression | DO:1270 hereditary hemorrhagic telangiectasia |
PMID:10767348; PMID:14684682; PMID:9245985 |
enables | NOT GO:0004675 transmembrane receptor protein serine/threonine kinase activity |
PMID:14684682 |
located_in | GO:0005783 endoplasmic reticulum |
PMID:14684682 |
PR:000000329 hACVRL1/var:S333I UniProtKB:P37023, Ser-333, CHEBI:30009 | serine/threonine-protein kinase receptor R3 sequence variant 20 (human) "A serine/threonine-protein kinase receptor R3 (human) that has an Ile residue at the position equivalent to Ser-333 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, Ser-333, CHEBI:30009." [PMID:10767348, PMID:14684682, PMID:9245985, PRO:CNA, PRO:DAN] |
associated_with_disease_progression | DO:1270 hereditary hemorrhagic telangiectasia |
PMID:10767348; PMID:14684682; PMID:9245985 |
enables | NOT GO:0004675 transmembrane receptor protein serine/threonine kinase activity |
PMID:14684682 |
located_in | GO:0005783 endoplasmic reticulum |
PMID:14684682 |
PR:000000330 hACVRL1/var:L337P UniProtKB:P37023, Leu-337, CHEBI:50342 | serine/threonine-protein kinase receptor R3 sequence variant 21 (human) "A serine/threonine-protein kinase receptor R3 (human) that has a Pro residue at the position equivalent to Leu-337 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, Leu-337, CHEBI:50342." [PMID:15024723, PRO:CNA, PRO:DAN] |
associated_with_disease_progression | DO:1270 hereditary hemorrhagic telangiectasia |
PMID:15024723 |
PR:000000331 hACVRL1/var:C344Y UniProtKB:P37023, Cys-344, CHEBI:46858 | serine/threonine-protein kinase receptor R3 sequence variant 22 (human) "A serine/threonine-protein kinase receptor R3 (human) that has a Tyr residue at the position equivalent to Cys-344 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, Cys-344, CHEBI:46858." [PMID:10767348, PMID:14684682, PRO:CNA, PRO:DAN] |
associated_with_disease_progression | DO:1270 hereditary hemorrhagic telangiectasia |
PMID:10767348; PMID:14684682 |
enables | NOT GO:0004675 transmembrane receptor protein serine/threonine kinase activity |
PMID:14684682 |
located_in | GO:0005783 endoplasmic reticulum |
PMID:14684682 |
PR:000000332 hACVRL1/var:A347P UniProtKB:P37023, Ala-347, CHEBI:50342 | serine/threonine-protein kinase receptor R3 sequence variant 23 (human) "A serine/threonine-protein kinase receptor R3 (human) that has a Pro residue at the position equivalent to Ala-347 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, Ala-347, CHEBI:50342." [PMID:15024723, PRO:CNA, PRO:DAN] |
associated_with_disease_progression | DO:1270 hereditary hemorrhagic telangiectasia |
PMID:15024723 |
PR:000000333 hACVRL1/var:R374Q UniProtKB:P37023, Arg-374, CHEBI:30011 | serine/threonine-protein kinase receptor R3 sequence variant 24 (human) "A serine/threonine-protein kinase receptor R3 (human) that has a Gln residue at the position equivalent to Arg-374 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, Arg-374, CHEBI:30011." [PMID:14684682, PMID:15024723, PRO:CNA, PRO:DAN] |
associated_with_disease_progression | DO:1270 hereditary hemorrhagic telangiectasia |
PMID:14684682; PMID:15024723 |
enables | NOT GO:0004675 transmembrane receptor protein serine/threonine kinase activity |
PMID:14684682 |
located_in | GO:0005783 endoplasmic reticulum |
PMID:14684682 |
PR:000000334 hACVRL1/var:R374W UniProtKB:P37023, Arg-374, CHEBI:29954 | serine/threonine-protein kinase receptor R3 sequence variant 25 (human) "A serine/threonine-protein kinase receptor R3 (human) that has a Trp residue at the position equivalent to Arg-374 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, Arg-374, CHEBI:29954." [PMID:11170071, PMID:14684682, PMID:15712270, PMID:9245985, PRO:CNA, PRO:DAN] |
associated_with_disease_progression | DO:1270 hereditary hemorrhagic telangiectasia |
PMID:11170071; PMID:14684682; PMID:15712270; PMID:9245985 |
PR:000000335 hACVRL1/var:P378L UniProtKB:P37023, Pro-378, CHEBI:30006 | serine/threonine-protein kinase receptor R3 sequence variant 26 (human) "A serine/threonine-protein kinase receptor R3 (human) that has a Leu residue at the position equivalent to Pro-378 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, Pro-378, CHEBI:30006." [PMID:14684682, PRO:CNA, PRO:DAN] |
associated_with_disease_progression | DO:1270 hereditary hemorrhagic telangiectasia |
PMID:14684682 |
enables | NOT GO:0004675 transmembrane receptor protein serine/threonine kinase activity |
PMID:14684682 |
located_in | GO:0005783 endoplasmic reticulum |
PMID:14684682 |
PR:000000336 hACVRL1/var:E379K UniProtKB:P37023, Glu-379, CHEBI:29967 | serine/threonine-protein kinase receptor R3 sequence variant 27 (human) "A serine/threonine-protein kinase receptor R3 (human) that has a Lys residue at the position equivalent to Glu-379 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, Glu-379, CHEBI:29967." [PMID:15024723, PMID:15712270, PRO:CNA, PRO:DAN] |
associated_with_disease_progression | DO:1270 hereditary hemorrhagic telangiectasia |
PMID:15024723; PMID:15712270 |
PR:000000337 hACVRL1/var:M376R UniProtKB:P37023, Met-376, CHEBI:29952 | serine/threonine-protein kinase receptor R3 sequence variant 28 (human) "A serine/threonine-protein kinase receptor R3 (human) that has an Arg residue at the position equivalent to Met-376 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, Met-376, CHEBI:29952." [PMID:8640225, PRO:CNA, PRO:DAN] |
associated_with_disease_progression | DO:1270 hereditary hemorrhagic telangiectasia |
PMID:8640225 |
PR:000000338 hACVRL1/var:D397G UniProtKB:P37023, Asp-397, CHEBI:29947 | serine/threonine-protein kinase receptor R3 sequence variant 29 (human) "A serine/threonine-protein kinase receptor R3 (human) that has a Gly residue at the position equivalent to Asp-397 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, Asp-397, CHEBI:29947." [PMID:15024723, PRO:CNA, PRO:DAN] |
associated_with_disease_progression | DO:1270 hereditary hemorrhagic telangiectasia |
PMID:15024723 |
PR:000000339 hACVRL1/var:C51Y UniProtKB:P37023, Cys-51, CHEBI:46858 | serine/threonine-protein kinase receptor R3 sequence variant 3 (human) "A serine/threonine-protein kinase receptor R3 (human) that has a Tyr residue at the position equivalent to Cys-51 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, Cys-51, CHEBI:46858." [PMID:11170071, PRO:CNA, PRO:DAN] |
associated_with_disease_progression | DO:1270 hereditary hemorrhagic telangiectasia |
PMID:11170071 |
PR:000000340 hACVRL1/var:I398N UniProtKB:P37023, Ile-398, CHEBI:50347 | serine/threonine-protein kinase receptor R3 sequence variant 30 (human) "A serine/threonine-protein kinase receptor R3 (human) that has an Asn residue at the position equivalent to Ile-398 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, Ile-398, CHEBI:50347." [PMID:11170071, PRO:CNA, PRO:DAN] |
associated_with_disease_progression | DO:1270 hereditary hemorrhagic telangiectasia |
PMID:11170071 |
PR:000000341 hACVRL1/var:W399S UniProtKB:P37023, Trp-399, CHEBI:29999 | serine/threonine-protein kinase receptor R3 sequence variant 31 (human) "A serine/threonine-protein kinase receptor R3 (human) that has a Ser residue at the position equivalent to Trp-399 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, Trp-399, CHEBI:29999." [PMID:11170071, PRO:CNA, PRO:DAN] |
associated_with_disease_progression | DO:1270 hereditary hemorrhagic telangiectasia |
PMID:11170071 |
PR:000000342 hACVRL1/var:E407D UniProtKB:P37023, Glu-407, CHEBI:29958 | serine/threonine-protein kinase receptor R3 sequence variant 32 (human) "A serine/threonine-protein kinase receptor R3 (human) that has an Asp residue at the position equivalent to Glu-407 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, Glu-407, CHEBI:29958." [PMID:10767348, PMID:15712270, PRO:CNA, PRO:DAN] |
associated_with_disease_progression | DO:1270 hereditary hemorrhagic telangiectasia |
PMID:10767348; PMID:15712270 |
PR:000000343 hACVRL1/var:R411P UniProtKB:P37023, Arg-411, CHEBI:50342 | serine/threonine-protein kinase receptor R3 sequence variant 33 (human) "A serine/threonine-protein kinase receptor R3 (human) that has a Pro residue at the position equivalent to Arg-411 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, Arg-411, CHEBI:50342." [PMID:15024723, PRO:CNA, PRO:DAN] |
associated_with_disease_progression | DO:1270 hereditary hemorrhagic telangiectasia |
PMID:15024723 |
PR:000000344 hACVRL1/var:R411Q UniProtKB:P37023, Arg-411, CHEBI:30011 | serine/threonine-protein kinase receptor R3 sequence variant 34 (human) "A serine/threonine-protein kinase receptor R3 (human) that has a Gln residue at the position equivalent to Arg-411 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, Arg-411, CHEBI:30011." [PMID:14684682, PMID:15024723, PMID:8640225, PRO:CNA, PRO:DAN] |
associated_with_disease_progression | DO:1270 hereditary hemorrhagic telangiectasia |
PMID:14684682; PMID:15024723; PMID:8640225 |
enables | NOT GO:0004675 transmembrane receptor protein serine/threonine kinase activity |
PMID:14684682 |
located_in | GO:0005783 endoplasmic reticulum |
PMID:14684682 |
PR:000000345 hACVRL1/var:R411W UniProtKB:P37023, Arg-411, CHEBI:29954 | serine/threonine-protein kinase receptor R3 sequence variant 35 (human) "A serine/threonine-protein kinase receptor R3 (human) that has a Trp residue at the position equivalent to Arg-411 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, Arg-411, CHEBI:29954." [PMID:11484689, PMID:15024723, PMID:15712270, PRO:CNA, PRO:DAN] |
associated_with_disease_progression | DO:1270 hereditary hemorrhagic telangiectasia |
PMID:11484689; PMID:15024723; PMID:15712270 |
PR:000000346 hACVRL1/var:P424T UniProtKB:P37023, Pro-424, CHEBI:30013 | serine/threonine-protein kinase receptor R3 sequence variant 36 (human) "A serine/threonine-protein kinase receptor R3 (human) that has a Thr residue at the position equivalent to Pro-424 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, Pro-424, CHEBI:30013." [PMID:9245985, PRO:CNA, PRO:DAN] |
associated_with_disease_progression | DO:1270 hereditary hemorrhagic telangiectasia |
PMID:9245985 |
PR:000000347 hACVRL1/var:F425L UniProtKB:P37023, Phe-425, CHEBI:30006 | serine/threonine-protein kinase receptor R3 sequence variant 37 (human) "A serine/threonine-protein kinase receptor R3 (human) that has a Leu residue at the position equivalent to Phe-425 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, Phe-425, CHEBI:30006." [PMID:15024723, PRO:CNA, PRO:DAN] |
associated_with_disease_progression | DO:1270 hereditary hemorrhagic telangiectasia |
PMID:15024723 |
PR:000000348 hACVRL1/var:F425V UniProtKB:P37023, Phe-425, CHEBI:30015 | serine/threonine-protein kinase receptor R3 sequence variant 38 (human) "A serine/threonine-protein kinase receptor R3 (human) that has a Val residue at the position equivalent to Phe-425 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, Phe-425, CHEBI:30015." [PMID:15712270, PRO:CNA, PRO:DAN] |
associated_with_disease_progression | DO:1270 hereditary hemorrhagic telangiectasia |
PMID:15712270 |
PR:000000349 hACVRL1/var:F425del UniProtKB:P37023, 22-423, 425-503 | serine/threonine-protein kinase receptor R3 sequence variant 39 (human) "A serine/threonine-protein kinase receptor R3 (human) that has a single-residue deletion at the position equivalent to Phe-425 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, 22-423, 425-503." [PRO:CNA, PRO:DAN] |
associated_with_disease_progression | DO:1270 hereditary hemorrhagic telangiectasia |
UniProtKB_VAR:VAR_026812 |
PR:000000350 hACVRL1/var:R67Q UniProtKB:P37023, Arg-67, CHEBI:30011 | serine/threonine-protein kinase receptor R3 sequence variant 4 (human) "A serine/threonine-protein kinase receptor R3 (human) that has a Gln residue at the position equivalent to Arg-67 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, Arg-67, CHEBI:30011." [PMID:14684682, PMID:9245985, PRO:CNA, PRO:DAN] |
associated_with_disease_progression | DO:1270 hereditary hemorrhagic telangiectasia |
PMID:14684682; PMID:9245985 |
enables | NOT GO:0004675 transmembrane receptor protein serine/threonine kinase activity |
PMID:14684682 |
located_in | GO:0005783 endoplasmic reticulum |
PMID:14684682 |
PR:000000351 hACVRL1/var:R479L UniProtKB:P37023, Arg-479, CHEBI:30006 | serine/threonine-protein kinase receptor R3 sequence variant 40 (human) "A serine/threonine-protein kinase receptor R3 (human) that has a Leu residue at the position equivalent to Arg-479 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, Arg-479, CHEBI:30006." [PMID:15024723, PRO:CNA, PRO:DAN] |
associated_with_disease_progression | DO:1270 hereditary hemorrhagic telangiectasia |
PMID:15024723 |
PR:000000352 hACVRL1/var:A482V UniProtKB:P37023, Ala-482, CHEBI:30015 | serine/threonine-protein kinase receptor R3 sequence variant 41 (human) "A serine/threonine-protein kinase receptor R3 (human) that has a Val residue at the position equivalent to Ala-482 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, Ala-482, CHEBI:30015." [PMID:15024723, PRO:CNA, PRO:DAN] |
associated_with_disease_progression | DO:1270 hereditary hemorrhagic telangiectasia |
PMID:15024723 |
PR:000000353 hACVRL1/var:R484W UniProtKB:P37023, Arg-484, CHEBI:29954 | serine/threonine-protein kinase receptor R3 sequence variant 42 (human) "A serine/threonine-protein kinase receptor R3 (human) that has a Trp residue at the position equivalent to Arg-484 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, Arg-484, CHEBI:29954." [PMID:11484689, PMID:15024723, PRO:CNA, PRO:DAN] |
associated_with_disease_progression | DO:1270 hereditary hemorrhagic telangiectasia |
PMID:11484689; PMID:15024723 |
PR:000000354 hACVRL1/var:K487T UniProtKB:P37023, Lys-487, CHEBI:30013 | serine/threonine-protein kinase receptor R3 sequence variant 43 (human) "A serine/threonine-protein kinase receptor R3 (human) that has a Thr residue at the position equivalent to Lys-487 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, Lys-487, CHEBI:30013." [PMID:14684682, PRO:CNA, PRO:DAN] |
associated_with_disease_progression | DO:1270 hereditary hemorrhagic telangiectasia |
PMID:14684682 |
located_in | GO:0005886 plasma membrane |
PMID:14684682 |
PR:000000355 hACVRL1/var:GA48/49EP UniProtKB:P37023, Gly-48, CHEBI:29972|Ala-49, CHEBI:46217 | serine/threonine-protein kinase receptor R3 sequence variant 44 (human) "A serine/threonine-protein kinase receptor R3 (human) that has Glu and Pro residues at positions equivalent to Gly-48 and Ala-49 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, Gly-48, CHEBI:29972|Ala-49, CHEBI:46217." [PMID:10767348, PRO:CNA, PRO:DAN] |
associated_with_disease_progression | DO:1270 hereditary hemorrhagic telangiectasia |
UniProtKB_VAR:VAR_026784 |
PR:000000356 hACVRL1/var:R67W UniProtKB:P37023, Arg-67, CHEBI:29954 | serine/threonine-protein kinase receptor R3 sequence variant 5 (human) "A serine/threonine-protein kinase receptor R3 (human) that has a Trp residue at the position equivalent to Arg-67 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, Arg-67, CHEBI:29954." [PMID:15712270, PRO:CNA, PRO:DAN] |
associated_with_disease_progression | DO:1270 hereditary hemorrhagic telangiectasia |
PMID:15712270 |
PR:000000357 hACVRL1/var:C77W UniProtKB:P37023, Cys-77, CHEBI:29954 | serine/threonine-protein kinase receptor R3 sequence variant 6 (human) "A serine/threonine-protein kinase receptor R3 (human) that has a Trp residue at the position equivalent to Cys-77 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, Cys-77, CHEBI:29954." [PMID:10694922, PMID:14684682, PRO:CNA, PRO:DAN] |
associated_with_disease_progression | DO:1270 hereditary hemorrhagic telangiectasia |
PMID:10694922; PMID:14684682 |
enables | NOT GO:0004675 transmembrane receptor protein serine/threonine kinase activity |
PMID:14684682 |
located_in | GO:0005783 endoplasmic reticulum |
PMID:14684682 |
PR:000000358 hACVRL1/var:N96D UniProtKB:P37023, Asn-96, CHEBI:29958 | serine/threonine-protein kinase receptor R3 sequence variant 7 (human) "A serine/threonine-protein kinase receptor R3 (human) that has an Asp residue at the position equivalent to Asn-96 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, Asn-96, CHEBI:29958." [PMID:10694922, PRO:CNA, PRO:DAN] |
associated_with_disease_progression | DO:1270 hereditary hemorrhagic telangiectasia |
PMID:10694922 |
PR:000000359 hACVRL1/var:D179A UniProtKB:P37023, Asp-179, CHEBI:46217 | serine/threonine-protein kinase receptor R3 sequence variant 8 (human) "A serine/threonine-protein kinase receptor R3 (human) that has an Ala residue at the position equivalent to Asp-179 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, Asp-179, CHEBI:46217." [PMID:14684682, PRO:CNA, PRO:DAN] |
associated_with_disease_progression | DO:1270 hereditary hemorrhagic telangiectasia |
PMID:14684682 |
located_in | GO:0009986 cell surface |
PMID:14684682 |
PR:000000360 hACVRL1/var:G211D UniProtKB:P37023, Gly-211, CHEBI:29958 | serine/threonine-protein kinase receptor R3 sequence variant 9 (human) "A serine/threonine-protein kinase receptor R3 (human) that has an Asp residue at the position equivalent to Gly-211 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, Gly-211, CHEBI:29958." [PMID:14684682, PRO:CNA, PRO:DAN] |
associated_with_disease_progression | DO:1270 hereditary hemorrhagic telangiectasia |
PMID:14684682 |
enables | NOT GO:0004675 transmembrane receptor protein serine/threonine kinase activity |
PMID:14684682 |
located_in | GO:0005783 endoplasmic reticulum |
PMID:14684682 |
PR:P37023-1 hACVRL1/iso:1
"A serine/threonine-protein kinase receptor R3 isoform 1 that is encoded in the genome of human." [PRO:CNA] |
acts_upstream_of_or_within | GO:0001525 angiogenesis |
PMID:12453878 |
GO:0006468 protein phosphorylation |
PMID:9920917 |
GO:0008015 blood circulation |
PMID:9245985 |
enables | GO:0004675 transmembrane receptor protein serine/threonine kinase activity |
PMID:8242742; PMID:9245985 |
GO:0005025 transforming growth factor beta receptor activity, type I |
PMID:8242742 |
GO:0016361 activin receptor activity, type I |
PMID:8242742 |
GO:0046332 SMAD binding |
PMID:9920917 |
GO:0048185 activin binding |
PMID:8242742 |
GO:0050431 transforming growth factor beta binding |
PMID:8242742 |
located_in | GO:0005886 plasma membrane |
PMID:8242742; PMID:8397373 |
GO:0009986 cell surface |
PMID:8242742 |