PRO Term |
GO Annotation |
Evidence |
PR:000000920 hKCNQ4/var:G285C UniProtKB:P56696, Gly-285, CHEBI:29950 | UniProtKB:P56696-1, Gly-285, CHEBI:29950 | voltage-gated potassium channel subunit KCNQ4 sequence variant 1 (human) |
associated_with_disease_progression | DO:0050564 autosomal dominant nonsyndromic deafness |
PMID:10369879 |
enables | altered GO:0005249 voltage-gated potassium channel activity relative to PR:000000918 KCNQ4/iso:1 |
PMID:10369879 |
PR:000000921 hKCNQ4/var:L274H UniProtKB:P56696, Leu-274, CHEBI:29979 | UniProtKB:P56696-1, Leu-274, CHEBI:29979 | voltage-gated potassium channel subunit KCNQ4 sequence variant 2 (human) |
associated_with_disease_progression | DO:0050564 autosomal dominant nonsyndromic deafness |
PMID:10925378 |
PR:000000922 hKCNQ4/var:G285S UniProtKB:P56696, Gly-285, CHEBI:29999 | UniProtKB:P56696-1, Gly-285, CHEBI:29999 | voltage-gated potassium channel subunit KCNQ4 sequence variant 3 (human) |
associated_with_disease_progression | DO:0050564 autosomal dominant nonsyndromic deafness |
PMID:10025409 |
enables | altered GO:0005249 voltage-gated potassium channel activity relative to PR:000000918 KCNQ4/iso:1 |
PMID:10025409 |
PR:000000923 hKCNQ4/var:L281S UniProtKB:P56696, Leu-281, CHEBI:29999 | UniProtKB:P56696-1, Leu-281, CHEBI:29999 | voltage-gated potassium channel subunit KCNQ4 sequence variant 4 (human) |
associated_with_disease_progression | DO:0050564 autosomal dominant nonsyndromic deafness |
PMID:10571947 |
PR:000000924 hKCNQ4/var:W276S UniProtKB:P56696, Trp-276, CHEBI:29999 | UniProtKB:P56696-1, Trp-276, CHEBI:29999 | voltage-gated potassium channel subunit KCNQ4 sequence variant 5 (human) |
associated_with_disease_progression | DO:0050564 autosomal dominant nonsyndromic deafness |
PMID:10369879 |
PR:000000925 hKCNQ4/var:G321S UniProtKB:P56696, Gly-321, CHEBI:29999 | UniProtKB:P56696-1, Gly-321, CHEBI:29999 | voltage-gated potassium channel subunit KCNQ4 sequence variant 6 (human) |
associated_with_disease_progression | DO:0050564 autosomal dominant nonsyndromic deafness |
PMID:10369879 |