UniProtKB/SwissProt variant VAR

Cochlin
Gene: COCH
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Variant information Variant position:

542
Type of variant:

LP/P [Disclaimer]
Residue change:

From Cysteine (C) to Tyrosine (Y) at position 542 (C542Y, p.Cys542Tyr).
Physico-chemical properties:

Change from medium size and polar (C) to large size and aromatic (Y)
BLOSUM score:

-2
Variant description:

In DFNA9.
Other resources:

Variant rs121908932 [ dbSNP | Ensembl ]

Sequence information Variant position:

542
Protein sequence length:

550
Location on the sequence:

FFTREFTGLEPIVSDVIRGI C RDFLESQQ
Residue conservation:

Human                         FFTREFTGLEPIVSDVIRGICRDFLESQQ

Mouse                         FFTREFTGLEPIVSDVIRGICRDFLESQQ

Bovine                        FFTREFTGLEPIVSDVIRGICRDFLESQQ

Chicken                       FFTREFTGLEQMVPDVIRGICKDFLDSKQ

Sequence annotation in neighborhood:

Type	Positions	Description
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.

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O43405: Variant p.Cys542Tyr