UniProtKB/Swiss-Prot Q9Y210: Variant p.Ala404Val

Short transient receptor potential channel 6
Gene: TRPC6
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Variant information Variant position:

404 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

LB/B 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 Alanine (A) to Valine (V) at position 404 (A404V, p.Ala404Val). 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 hydrophobic (A) to medium size and hydrophobic (V) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

0 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:

Increases calcium ion transport. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs36111323 [ dbSNP | Ensembl ]

Sequence information Variant position:

404 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:

QQQLLSIWYENLSGLRQQTM A VKFLVVLAVAIGLPFLALIY 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                         QQQLLSIWYENLSGLRQQTMAVKFLVVLAVAIGLPFLALIY

Mouse                         QQQLLSIWYENLSGLRQQTMAVKFLVVLAVAIGLPFLALIY

Bovine                        QQQLLSIWYENLSGLRQQTMAVKFLVVLAVAVGLPFLALVY

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
Chain	1 – 931	Short transient receptor potential channel 6
Topological domain	1 – 438	Cytoplasmic
Alternative sequence	316 – 431	Missing. In isoform 2.
Alternative sequence	377 – 431	Missing. In isoform 3.

Literature citations
A novel TRPC6 mutation that causes childhood FSGS.
Heeringa S.F.; Moeller C.C.; Du J.; Yue L.; Hinkes B.; Chernin G.; Vlangos C.N.; Hoyer P.F.; Reiser J.; Hildebrandt F.;
PLoS ONE 4:E7771-E7771(2009)
Cited for: VARIANTS SER-15 AND VAL-404; VARIANTS FSGS2 SER-143; THR-270 AND 874-LYS--ARG-931 DEL; CHARACTERIZATION OF VARIANT FSGS2 SER-143; MUTAGENESIS OF MET-132; FUNCTION; TRPC6 gene variants in Turkish children with steroid-resistant nephrotic syndrome.
Mir S.; Yavascan O.; Berdeli A.; Sozeri B.;
Nephrol. Dial. Transplant. 27:205-209(2012)
Cited for: VARIANT FSGS2 ALA-395; VARIANT VAL-404; 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.