Variant position: 633 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 727 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 FPNWAMALLITLIVVATLPI PVVFVLRHFHLLSDGSNTLSV
Mouse FPNWAMALLITLIAVATLPI PVVFILRHFHLLSDGSNTLSV
Rat FPNWAMALLITLIAVATLPI PVVFILRHFHLLSDGSNTLSV
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 – 727 Sodium-dependent neutral amino acid transporter SLC6A17
618 – 638 Helical; Name=12
Homozygous SLC6A17 mutations cause autosomal-recessive intellectual disability with progressive tremor, speech impairment, and behavioral problems.
Iqbal Z.; Willemsen M.H.; Papon M.A.; Musante L.; Benevento M.; Hu H.; Venselaar H.; Wissink-Lindhout W.M.; Vulto-van Silfhout A.T.; Vissers L.E.; de Brouwer A.P.; Marouillat S.; Wienker T.F.; Ropers H.H.; Kahrizi K.; Nadif Kasri N.; Najmabadi H.; Laumonnier F.; Kleefstra T.; van Bokhoven H.;
Am. J. Hum. Genet. 96:386-396(2015)
Cited for: INVOLVEMENT IN MRT48; VARIANTS MRT48 ARG-162 AND ARG-633;
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