Variant position: 34 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 435 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 KPHPATAAATLSSMGAVFIL MKSALGAGLLNFPWAFSKAGG
Mouse KPLPAATHPTLSSLGAVFIL LKSALGAGLLNFPWAFYKAGG
Xenopus tropicalis KSGLEGGTPSLSSMGAIFIM LKSALGAGLLNFPWAFNKVGG
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 – 435 Putative sodium-coupled neutral amino acid transporter 8
29 – 49 Helical
Recessive mutations in SLC38A8 cause foveal hypoplasia and optic nerve misrouting without albinism.
Poulter J.A.; Al-Araimi M.; Conte I.; van Genderen M.M.; Sheridan E.; Carr I.M.; Parry D.A.; Shires M.; Carrella S.; Bradbury J.; Khan K.; Lakeman P.; Sergouniotis P.I.; Webster A.R.; Moore A.T.; Pal B.; Mohamed M.D.; Venkataramana A.; Ramprasad V.; Shetty R.; Saktivel M.; Kumaramanickavel G.; Tan A.; Mackey D.A.; Hewitt A.W.; Banfi S.; Ali M.; Inglehearn C.F.; Toomes C.;
Am. J. Hum. Genet. 93:1143-1150(2013)
Cited for: TISSUE SPECIFICITY; VARIANTS FVH2 ARG-34; LYS-233; ASP-236; ALA-282 DEL AND ARG-412;
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