Variant position: 317 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 367 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 SHVLLAAPPGHQLHRAHYDL RHTFMGVVSLGSPSGEVSHPR
Chimpanzee SHVLLAAPPGHQLHWAHYDL RHTFMGVVSLGSPSGEASHPR
Mouse ----VVVPRGLSDHRTYHDL RHAFSPVASVESASGETLH--
Rat ----VAVPLGLPDHRTHHDL RHAFSPVASVESASGEVLH--
Bovine ----SVVAVPLPLHRAHYDL RHTFSGVASVESSSGEAFHVG
Sheep ----SVVAVPLPLHRAHYDL RHTFSGVASVESASGEAFHVG
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
301 – 340 Connecting peptide
319 – 319 Phosphothreonine; by FAM20C
325 – 325 Phosphoserine; by FAM20C
328 – 328 Phosphoserine; by FAM20C
330 – 330 Phosphoserine; by FAM20C
32 – 358 Interchain (between A and B chains)
Association of AHSG with alopecia and mental retardation (APMR) syndrome.
Reza Sailani M.; Jahanbani F.; Nasiri J.; Behnam M.; Salehi M.; Sedghi M.; Hoseinzadeh M.; Takahashi S.; Zia A.; Gruber J.; Lynch J.L.; Lam D.; Winkelmann J.; Amirkiai S.; Pang B.; Rego S.; Mazroui S.; Bernstein J.A.; Snyder M.P.;
Hum. Genet. 136:287-296(2017)
Cited for: INVOLVEMENT IN APMR1; VARIANT APMR1 HIS-317;
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