Variant position: 282 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 WGKIVCLCTGVMGVCCTALL VAVVARKLEFNKAEKHVHNFM
Mouse WGKIVCLCTGVMGVCCTALL VAVVARKLEFNKAEKHVHNFM
Rat WGKIVCLCTGVMGVCCTALL VAVVARKLEFNKAEKHVHNFM
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
265 – 285 Helical; Name=Segment S6
275 – 275 V -> A. Loss of sensitivity to triarylmethanes.
261 – 287
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;
Mutations in the Gardos channel (KCNN4) are associated with hereditary xerocytosis.
Glogowska E.; Lezon-Geyda K.; Maksimova Y.; Schulz V.P.; Gallagher P.G.;
Cited for: VARIANTS DHS2 GLU-282 AND MET-282;
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