Variant position: 413 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 469 The length of the canonical sequence.
Location on the sequence:
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human WGGEVLIVASWVLFSGCLSY VKVMLGVVLRDLSRSALLWCG
Mouse WGGEVLIVLSWVLFAACLSY VKVMLGVILRDRSRSALLWCG
Rat WGGEVLIVLSWMLFVACLSY VKVMLGVILRDRSRSALLWCG
Bovine WGGEVLIVVSWVLFTGCLSY VKVMLGVILRDHSRSALLWCG
Sequence annotation in neighborhood: The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
Type: the type of sequence feature. Positions: endpoints of the sequence feature. Description: contains additional information about the feature.
Type Positions Description
1 – 469 Solute carrier family 52, riboflavin transporter, member 3
397 – 417 Helical
386 – 463
401 – 415 ASWVLFSGCLSYVKV -> SIRPVGLLPLRTPHP. In isoform 2.
Brown-Vialetto-Van Laere syndrome, a ponto-bulbar palsy with deafness, is caused by mutations in c20orf54.
Green P.; Wiseman M.; Crow Y.J.; Houlden H.; Riphagen S.; Lin J.P.; Raymond F.L.; Childs A.M.; Sheridan E.; Edwards S.; Josifova D.J.;
Am. J. Hum. Genet. 86:485-489(2010)
Cited for: VARIANTS BVVLS1 LYS-36; TRP-132; LEU-224; ALA-413 AND LEU-457; VARIANT MET-350;
Brown-Vialetto-van Laere and Fazio-Londe overlap syndromes: a clinical, biochemical and genetic study.
Ciccolella M.; Catteruccia M.; Benedetti S.; Moroni I.; Uziel G.; Pantaleoni C.; Chiapparini L.; Bizzi A.; D'Amico A.; Fattori F.; Salsano M.L.; Pastore A.; Tozzi G.; Piemonte F.; Bertini E.;
Neuromuscul. Disord. 22:1075-1082(2012)
Cited for: VARIANTS BVVLS1 ASP-58; TRP-266; SER-319 AND ALA-413; VARIANT VAL-303;
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.