Variant position: 35 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 600 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 AQHVLEVVQRDFDLRRKEEE RLEALKGKIKKESSKRELLSD
Mouse AEHVWAVVQRDFDLRRREEE RLQGLKGKIQKESSKRELLSD
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 – 600 Melanophilin
4 – 124 RabBD
24 – 24 R -> A. Decreases RAB27A binding.
32 – 32 E -> A. Abolishes RAB27A binding.
Griscelli syndrome restricted to hypopigmentation results from a melanophilin defect (GS3) or a MYO5A F-exon deletion (GS1).
Menasche G.; Ho C.H.; Sanal O.; Feldmann J.; Tezcan I.; Ersoy F.; Houdusse A.; Fischer A.; de Saint Basile G.;
J. Clin. Invest. 112:450-456(2003)
Cited for: VARIANT GS3 TRP-35;
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