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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O43405: Variant p.Cys542Tyr

Cochlin
Gene: COCH
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Variant information Variant position: help 542
Type of variant: help LP/P [Disclaimer]
Residue change: help From Cysteine (C) to Tyrosine (Y) at position 542 (C542Y, p.Cys542Tyr).
Physico-chemical properties: help Change from medium size and polar (C) to large size and aromatic (Y)
BLOSUM score: help -2
Variant description: help In DFNA9.
Other resources: help


Sequence information Variant position: help 542
Protein sequence length: help 550
Location on the sequence: help FFTREFTGLEPIVSDVIRGI C RDFLESQQ
Residue conservation: help
Human                         FFTREFTGLEPIVSDVIRGICRDFLESQQ

Mouse                         FFTREFTGLEPIVSDVIRGICRDFLESQQ

Bovine                        FFTREFTGLEPIVSDVIRGICRDFLESQQ

Chicken                       FFTREFTGLEQMVPDVIRGICKDFLDSKQ

Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 25 – 550 Cochlin
Alternative sequence 493 – 550 GITIFSVGVAWAPLDDLKDMASKPKESHAFFTREFTGLEPIVSDVIRGICRDFLESQQ -> AK. In isoform 2.



Literature citations
Novel mutations in the vWFA2 domain of COCH in two Chinese DFNA9 families.
Yuan H.J.; Han D.Y.; Sun Q.; Yan D.; Sun H.J.; Tao R.; Cheng J.; Qin W.; Angeli S.; Ouyang X.M.; Yang S.Z.; Feng L.; Cao J.Y.; Feng G.Y.; Wang Y.F.; Dai P.; Zhai S.Q.; Yang W.Y.; He L.; Liu X.Z.;
Clin. Genet. 73:391-394(2008)
Cited for: VARIANTS DFNA9 THR-512 AND TYR-542;
Disclaimer: Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.