Sequence information
Variant position: 26 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:
AQKTLFPLRSIDDVVRLFAA
E LGREEPDLVLLSLVLGFVEH
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 AQKTLFPLRSIDDVVRLFAAE LGREEPDLVLLSLVLGFVEH
Mouse AQKTLFPLRSIDDVVRLFAAE LGREEPDLVLLSLVLGFVEH
Rat AQKTLFPLRSIDDVVRLFAAE LGREEPDLVLLSLVLGFVEH
Bovine AQKTLFPLRSIDDVVRLFAAE LGREEPDLVLLSLVLGFVEH
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.
Literature citations
Somatic mutation of the MEN1 gene in parathyroid tumours.
Heppner C.; Kester M.B.; Agarwal S.K.; Debelenko L.V.; Emmert-Buck M.R.; Guru S.C.; Manickam P.; Olufemi S.-E.; Skarulis M.C.; Doppman J.L.; Alexander R.H.; Kim Y.S.; Saggar S.K.; Lubensky I.A.; Zhuang Z.; Liotta L.A.; Chandrasekharappa S.C.; Collins F.S.; Spiegel A.M.; Burns A.L.; Marx S.J.;
Nat. Genet. 16:375-378(1997)
Cited for: VARIANT PARATHYROID ADENOMA LYS-26;
A family with isolated hyperparathyroidism segregating a missense MEN1 mutation and showing loss of the wild-type alleles in the parathyroid tumors.
Teh B.T.; Esapa C.T.; Houlston R.; Grandell U.; Farnebo F.; Nordenskjoeld M.; Pearce C.J.; Carmichael D.; Larsson C.; Harris P.E.;
Am. J. Hum. Genet. 63:1544-1549(1998)
Cited for: VARIANT LYS-260; INVOLVEMENT IN ISOLATED HYPERPARATHYROIDISM;
MEN1 gene mutations in 12 MEN1 families and their associated tumors.
Bartsch D.; Kopp I.; Bergenfelz A.; Rieder H.; Muench K.; Jaeger K.; Deiss Y.; Schudy A.; Barth P.; Arnold R.; Rothmund M.; Simon B.;
Eur. J. Endocrinol. 139:416-420(1998)
Cited for: VARIANTS MEN1 LYS-26 AND PRO-173;
Disclaimer:
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.