Variant position: 499 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 622 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 GYTLGIPDVIMGITFLAAGT SVPDCMASLIVARQGLGDMAV
Mouse GYTLGIPDVIMGITFLAAGT SVPDCMASLIVARQGLGDMAV
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
39 – 622 Sodium/potassium/calcium exchanger 4
479 – 479 Extracellular
480 – 500 Helical
495 – 526 Alpha-2
Identification of mutations in SLC24A4, encoding a potassium-dependent sodium/calcium exchanger, as a cause of amelogenesis imperfecta.
Parry D.A.; Poulter J.A.; Logan C.V.; Brookes S.J.; Jafri H.; Ferguson C.H.; Anwari B.M.; Rashid Y.; Zhao H.; Johnson C.A.; Inglehearn C.F.; Mighell A.J.;
Am. J. Hum. Genet. 92:307-312(2013)
Cited for: INVOLVEMENT IN AI2A5; VARIANT AI2A5 CYS-499;
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