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UniProtKB/Swiss-Prot Q9Y210: Variant p.Arg175Gln

Short transient receptor potential channel 6
Gene: TRPC6
Variant information

Variant position:  175
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 Arginine (R) to Glutamine (Q) at position 175 (R175Q, p.Arg175Gln).
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 large size and basic (R) to medium size and polar (Q)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  1
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 FSGS2; increases cation channel activity; does not change plasma membrane expression; increases calcium ion transport.
Any additional useful information about the variant.

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



Sequence information

Variant position:  175
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  931
The length of the canonical sequence.

Location on the sequence:   KENLSRVGDALLLAISKGYV  R IVEAILSHPAFAEGKRLATS
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                         KENLSRVGDALLLAISKGYVRIVEAILSHPAFAEGKRLATS

Mouse                         KENLSRVGDALLLAISKGYVRIVEAILNHPAFAEGKRLATS

Bovine                        KENLSRVGDALLLAISKGYVRIVEAILSHPAFAEGKRLATS

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 – 931 Short transient receptor potential channel 6
Topological domain 1 – 438 Cytoplasmic
Repeat 163 – 189 ANK 3
Helix 174 – 180


Literature citations

New TRPC6 gain-of-function mutation in a non-consanguineous Dutch family with late-onset focal segmental glomerulosclerosis.
Hofstra J.M.; Lainez S.; van Kuijk W.H.; Schoots J.; Baltissen M.P.; Hoefsloot L.H.; Knoers N.V.; Berden J.H.; Bindels R.J.; van der Vlag J.; Hoenderop J.G.; Wetzels J.F.; Nijenhuis T.;
Nephrol. Dial. Transplant. 28:1830-1838(2013)
Cited for: VARIANTS FSGS2 GLN-175 AND CYS-895; CHARACTERIZATION OF VARIANTS FSGS2 GLN-175 AND CYS-895; FUNCTION; SUBCELLULAR LOCATION;

TRPC6 G757D Loss-of-Function Mutation Associates with FSGS.
Riehle M.; Buescher A.K.; Gohlke B.O.; Kassmann M.; Kolatsi-Joannou M.; Braesen J.H.; Nagel M.; Becker J.U.; Winyard P.; Hoyer P.F.; Preissner R.; Krautwurst D.; Gollasch M.; Weber S.; Harteneck C.;
J. Am. Soc. Nephrol. 27:2771-2783(2016)
Cited for: MUTAGENESIS OF ASN-110; MET-132; 755-GLU--GLY-757; 755-GLU-GLU-756; 826-LYS-LYS-827 AND GLN-889; VARIANTS FSGS2 SER-109; GLN-112; SER-125; SER-143; GLN-175; LEU-218; ALA-395; ASP-757; PRO-780; CYS-895; LEU-895 AND LYS-897; CHARACTERIZATION OF VARIANTS FSGS2 SER-109; GLN-112; SER-125; SER-143; GLN-175; LEU-218; ALA-395; ASP-757; PRO-780; CYS-895; LEU-895 AND LYS-897; VARIANT VAL-404; CHARACTERIZATION OF VARIANT VAL-404; FUNCTION; SUBCELLULAR LOCATION; SUBUNIT;

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.