Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O43511: Variant p.Ser391Asn

Pendrin
Gene: SLC26A4
Feedback?
Variant information Variant position: help 391
Type of variant: help LP/P [Disclaimer]
Residue change: help From Serine (S) to Asparagine (N) at position 391 (S391N, p.Ser391Asn).
Physico-chemical properties: help Change from small size and polar (S) to medium size and polar (N)
BLOSUM score: help 1
Variant description: help In PDS.
Other resources: help


Sequence information Variant position: help 391
Protein sequence length: help 780
Location on the sequence: help YATKYDYTIDGNQEFIAFGI S NIFSGFFSCFVATTALSRTA
Residue conservation: help 
Human                         YATKYDYTIDGNQEFIAFGISNIFSGFFSCFVATTALSRTA

Mouse                         YATKHDYVIDGNQEFIAFGISNVFSGFFSCFVATTALSRTA

Rat                           YATKHDYIIDGNQEFIAFGISNVFSGFFSCFVATTALSRTA
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 780 Pendrin
Transmembrane 385 – 405 Helical
Alternative sequence 1 – 431 Missing. In isoform 2.



Literature citations
Screening of SLC26A4 (PDS) gene in Pendred's syndrome: a large spectrum of mutations in France and phenotypic heterogeneity.
Blons H.; Feldmann D.; Duval V.; Messaz O.; Denoyelle F.; Loundon N.; Sergout-Allaoui A.; Houang M.; Duriez F.; Lacombe D.; Delobel B.; Leman J.; Catros H.; Journel H.; Drouin-Garraud V.; Obstoy M.-F.; Toutain A.; Oden S.; Toublanc J.E.; Couderc R.; Petit C.; Garabedian E.-N.; Marlin S.;
Clin. Genet. 66:333-340(2004)
Cited for: VARIANTS PDS GLN-29; CYS-78; PRO-137; PHE-138; ILE-193; VAL-209; PRO-236; ASN-391; HIS-409; MET-410; PRO-416; TRP-445; HIS-530; ILE-552; PRO-694; MET-721 AND ASN-724; VARIANT SER-597;
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.