Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O43511: Variant p.Pro123Ser

Pendrin
Gene: SLC26A4
Feedback?
Variant information Variant position: help 123
Type of variant: help LP/P [Disclaimer]
Residue change: help From Proline (P) to Serine (S) at position 123 (P123S, p.Pro123Ser).
Physico-chemical properties: help Change from medium size and hydrophobic (P) to small size and polar (S)
BLOSUM score: help -1
Variant description: help In DFNB4.
Other resources: help


Sequence information Variant position: help 123
Protein sequence length: help 780
Location on the sequence: help MAYALLAAVPVGYGLYSAFF P ILTYFIFGTSRHISVGPFPV
Residue conservation: help
Human                         MAYALLAAVPVGYGLYSAFFPILTYFIFGTSRHISVGPFPV

Mouse                         MAYALLAAVPVQFGLYSAFFPILTYFVFGTSRHISVGPFPV

Rat                           MAYALLAAVPVQYGLYSAFFPILTYFVFGTSRHISVGPFPV

Sequence annotation in neighborhood: help
TypePositionsDescription
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.