Variant position: 161 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 615 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 QSLFSFITGWSPVGTKLDSS GVAFAVVGACQALGLRDVHLA
Mouse QSLFSFITG-----TKLDSS GVAFAVVGACQALGLRDVHLA
Rat QSLFSFITG-----TKLDSS GVAFAVVGACQALGLRDVHLA
Bovine QSLFSFITG-----TKLDSS GVAFAVVGACQALGLRDVHLA
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.
Germline mutations in the multiple endocrine neoplasia type 1 gene: evidence for frequent splicing defects.
Mutch M.G.; Dilley W.G.; Sanjurjo F.; Debenedetti M.K.; Doherty G.M.; Wells S.A. Jr.; Goodfellow P.J.; Lairmore T.C.;
Hum. Mutat. 13:175-185(1999)
Cited for: VARIANTS MEN1 ASP-161 AND ARG-246;
Screening of the MEN1 gene and discovery of germ-line and somatic mutations in apparently sporadic parathyroid tumors.
Uchino S.; Noguchi S.; Sato M.; Yamashita H.; Yamashita H.; Watanabe S.; Murakami T.; Toda M.; Ohshima A.; Futata T.; Mizukoshi T.; Koike E.; Takatsu K.; Terao K.; Wakiya S.; Nagatomo M.; Adachi M.;
Cancer Res. 60:5553-5557(2000)
Cited for: VARIANTS PARATHYROID TUMOR ASP-161; ARG-188; TRP-258; ALA-279 AND PRO-289;
Clinical testing for multiple endocrine neoplasia type 1 in a DNA diagnostic laboratory.
Klein R.D.; Salih S.; Bessoni J.; Bale A.E.;
Genet. Med. 7:131-138(2005)
Cited for: VARIANTS MEN1 VAL-144; ASP-161; ASP-184; LYS-184; ARG-186; MET-220; ARG-264; ARG-325; TRP-360; TYR-426; CYS-441 AND ARG-441;
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.