Variant position: 811 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1791 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 FILITVIGKLVVLNLFIALL LNSFSNEERNGNLEGEARKTK
Mouse FVLIMVVGKLVVLNLFIALL LNSFSNEEKDGNPEGETRKTK
Rat FVLIMVIGKLVVLNLFIALL LNSFSNEEKDGSLEGETRKTK
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 – 1791 Sodium channel protein type 11 subunit alpha
786 – 811 Helical; Name=S6 of repeat II
559 – 833 II
A de novo gain-of-function mutation in SCN11A causes loss of pain perception.
Leipold E.; Liebmann L.; Korenke G.C.; Heinrich T.; Giesselmann S.; Baets J.; Ebbinghaus M.; Goral R.O.; Stodberg T.; Hennings J.C.; Bergmann M.; Altmuller J.; Thiele H.; Wetzel A.; Nurnberg P.; Timmerman V.; De Jonghe P.; Blum R.; Schaible H.G.; Weis J.; Heinemann S.H.; Hubner C.A.; Kurth I.;
Nat. Genet. 45:1399-1404(2013)
Cited for: VARIANT HSAN7 PRO-811; CHARACTERIZATION OF VARIANT HSAN7 PRO-811;
Cold-aggravated pain in humans caused by a hyperactive NaV1.9 channel mutant.
Leipold E.; Hanson-Kahn A.; Frick M.; Gong P.; Bernstein J.A.; Voigt M.; Katona I.; Oliver Goral R.; Altmueller J.; Nuernberg P.; Weis J.; Huebner C.A.; Heinemann S.H.; Kurth I.;
Nat. Commun. 6:10049-10049(2015)
Cited for: VARIANT HSAN7 ALA-1184; CHARACTERIZATION OF VARIANTS HSAN7 PRO-811 AND ALA-1184;
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.