UniProtKB/SwissProt variant VAR

Pendrin
Gene: SLC26A4
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Variant information Variant position:

123
Type of variant:

LP/P [Disclaimer]
Residue change:

From Proline (P) to Serine (S) at position 123 (P123S, p.Pro123Ser).
Physico-chemical properties:

Change from medium size and hydrophobic (P) to small size and polar (S)
BLOSUM score:

-1
Variant description:

In DFNB4.
Other resources:

Variant rs984967571 [ dbSNP | Ensembl ]

Sequence information Variant position:

123
Protein sequence length:

780
Location on the sequence:

MAYALLAAVPVGYGLYSAFF P ILTYFIFGTSRHISVGPFPV
Residue conservation:

Human                         MAYALLAAVPVGYGLYSAFFPILTYFIFGTSRHISVGPFPV

Mouse                         MAYALLAAVPVQFGLYSAFFPILTYFVFGTSRHISVGPFPV

Rat                           MAYALLAAVPVQYGLYSAFFPILTYFVFGTSRHISVGPFPV

Sequence annotation in neighborhood:

Type	Positions	Description
Chain	1 – 780	Pendrin
Topological domain	109 – 109	Extracellular
Transmembrane	110 – 130	Helical
Alternative sequence	1 – 431	Missing. In isoform 2.

Literature citations
Distribution and frequencies of PDS (SLC26A4) mutations in Pendred syndrome and nonsyndromic hearing loss associated with enlarged vestibular aqueduct: a unique spectrum of mutations in Japanese.
Tsukamoto K.; Suzuki H.; Harada D.; Namba A.; Abe S.; Usami S.;
Eur. J. Hum. Genet. 11:916-922(2003)
Cited for: VARIANTS DFNB4 SER-123; VAL-147 AND PHE-666;

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 O43511: Variant p.Pro123Ser