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UniProtKB/Swiss-Prot Q9BX84: Variant p.Ser141Leu

Transient receptor potential cation channel subfamily M member 6
Gene: TRPM6
Variant information

Variant position:  141
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  LP/P [Disclaimer]
The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance

Residue change:  From Serine (S) to Leucine (L) at position 141 (S141L, p.Ser141Leu).
Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.

Physico-chemical properties:  Change from small size and polar (S) to medium size and hydrophobic (L)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -2
The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page

Variant description:  In HOMG1; impairs heterodimer formation resulting in intracellular retention.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

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:   DHLLHLMLKEWKMELPKLVI  S VHGGIQNFTMPSKFKEIFSQ
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                         DHLLHLMLKEWKMELPKLVISVHGGIQNFTMPSKFKEIFSQ

Mouse                         DHLLHLMLKEWNMELPKLVISVHGGLQNFKISSKLKETFSQ

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.

TypePositionsDescription
Chain 1 – 2022 Transient receptor potential cation channel subfamily M member 6
Topological domain 1 – 741 Cytoplasmic


Literature citations

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;

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.