Variant position: 141 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 2022 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 DHLLHLMLKEWKMELPKLVI SVHGGIQNFTMPSKFKEIFSQ
Mouse DHLLHLMLKEWNMELPKLVI SVHGGLQNFKISSKLKETFSQ
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 – 2022 Transient receptor potential cation channel subfamily M member 6
1 – 741 Cytoplasmic
Hypomagnesemia with secondary hypocalcemia is caused by mutations in TRPM6, a new member of the TRPM gene family.
Schlingmann K.P.; Weber S.; Peters M.; Niemann Nejsum L.N.; Vitzthum H.; Klingel K.; Kratz M.; Haddad E.; Ristoff E.; Dinour D.; Syrrou M.; Nielsen S.; Sassen M.C.; Waldegger S.; Seyberth H.W.; Konrad M.;
Nat. Genet. 31:166-170(2002)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM TRPM6A); VARIANT HOMG1 LEU-141;
Disruption of TRPM6/TRPM7 complex formation by a mutation in the TRPM6 gene causes hypomagnesemia with secondary hypocalcemia.
Chubanov V.; Waldegger S.; Mederos y Schnitzler M.; Vitzthum H.; Sassen M.C.; Seyberth H.W.; Konrad M.; Gudermann T.;
Proc. Natl. Acad. Sci. U.S.A. 101:2894-2899(2004)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS TRPM6A; TRPM6B; TRPM6C; TRPM6T; M6-KINASE 1; M6-KINASE 2 AND M6-KINASE 3); CHARACTERIZATION OF VARIANT HOMG1 LEU-141; INTERACTION WITH TRPM7;
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.