Variant position: 352 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 427 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 KESHAARRHQRKLLAAINAF RQVRLKHRKLREQVNSMVDIS
Mouse KDSRAARRHQRKMLAAIHTF RQVRLKHRKLREQVNSMVDIS
Rat KDSRAARRHQRKMLAAIHTF RQVRLKHRKLREQVNSMVDIS
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 – 427 Intermediate conductance calcium-activated potassium channel protein 4
358 – 358 Phosphohistidine
338 – 368
Novel Gardos channel mutations linked to dehydrated hereditary stomatocytosis (xerocytosis).
Andolfo I.; Russo R.; Manna F.; Shmukler B.E.; Gambale A.; Vitiello G.; De Rosa G.; Brugnara C.; Alper S.L.; Snyder L.M.; Iolascon A.;
Am. J. Hematol. 90:921-926(2015)
Cited for: VARIANTS DHS2 MET-282 AND HIS-352;
A mutation in the Gardos channel is associated with hereditary xerocytosis.
Rapetti-Mauss R.; Lacoste C.; Picard V.; Guitton C.; Lombard E.; Loosveld M.; Nivaggioni V.; Dasilva N.; Salgado D.; Desvignes J.P.; Beroud C.; Viout P.; Bernard M.; Soriani O.; Vinti H.; Lacroze V.; Feneant-Thibault M.; Thuret I.; Guizouarn H.; Badens C.;
Cited for: INVOLVEMENT IN DHS2; VARIANT DHS2 HIS-352; SUBCELLULAR LOCATION; FUNCTION;
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