UniProtKB/Swiss-Prot Q01955: Variant p.Arg1661Cys

Collagen alpha-3(IV) chain
Gene: COL4A3
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Variant information Variant position:

1661 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

US 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 Cysteine (C) at position 1661 (R1661C, p.Arg1661Cys). 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 (C) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-3 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 ATS2; uncertain significance. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs201697532 [ dbSNP | Ensembl ]

Sequence information Variant position:

1661 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

1670 The length of the canonical sequence.
Location on the sequence:

MFRKPIPSTVKAGELEKIIS R CQVCMKKRH 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                         MFRKPIPSTVKAGELEKIISRCQVCMKKRH

Mouse                         MFRKPIPSTVKAGDLEKIISRCQVCMKKRH

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	29 – 1670	Collagen alpha-3(IV) chain
Chain	1426 – 1670	Tumstatin
Domain	1445 – 1669	Collagen IV NC1
Disulfide bond	1570 – 1665	Or C-1570 with C-1662
Disulfide bond	1604 – 1662	Or C-1604 with C-1665
Cross	1651 – 1651	S-Lysyl-methionine sulfilimine (Lys-Met) (interchain with M-1533)
Alternative sequence	1425 – 1670	Missing. In isoform 5.
Alternative sequence	1488 – 1670	GTLGSCLQRFTTMPFLFCNVNDVCNFASRNDYSYWLSTPALMPMNMAPITGRALEPYISRCTVCEGPAIAIAVHSQTTDIPPCPHGWISLWKGFSFIMFTSAGSEGTGQALASPGSCLEEFRASPFLECHGRGTCNYYSNSYSFWLASLNPERMFRKPIPSTVKAGELEKIISRCQVCMKKRH -> DALFVKVLRSP. In isoform 3.
Alternative sequence	1488 – 1670	GTLGSCLQRFTTMPFLFCNVNDVCNFASRNDYSYWLSTPALMPMNMAPITGRALEPYISRCTVCEGPAIAIAVHSQTTDIPPCPHGWISLWKGFSFIMFTSAGSEGTGQALASPGSCLEEFRASPFLECHGRGTCNYYSNSYSFWLASLNPERMFRKPIPSTVKAGELEKIISRCQVCMKKRH -> ESLFHQL. In isoform 4.
Alternative sequence	1586 – 1670	FTSAGSEGTGQALASPGSCLEEFRASPFLECHGRGTCNYYSNSYSFWLASLNPERMFRKPIPSTVKAGELEKIISRCQVCMKKRH -> KAYSINCESWGIRKNNKSLSGVHEEKTLKLKKTAELVFFILKNKVMTEHAVI. In isoform 2.
Beta strand	1661 – 1666

Literature citations
Structure of the human type IV collagen gene COL4A3 and mutations in autosomal Alport syndrome.
Heidet L.; Arrondel C.; Forestier L.; Cohen-Solal L.; Mollet G.; Gutierrez B.; Stavrou C.; Gubler M.-C.; Antignac C.;
J. Am. Soc. Nephrol. 12:97-106(2001)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 1); VARIANTS ATS2 GLU-297; ARG-407; ARG-640; GLU-1207; GLN-1215; SER-1277; THR-1330; GLU-1334; GLU-1347 AND CYS-1661; VARIANT ATS3A ARG-1167; VARIANTS ARG-43; PRO-141; TYR-326; HIS-408; ARG-451; LEU-574; GLU-1269 AND PRO-1474; Heterozygous COL4A3 variants in histologically diagnosed focal segmental glomerulosclerosis.
Braunisch M.C.; Buettner-Herold M.; Guenthner R.; Satanovskij R.; Riedhammer K.M.; Herr P.M.; Klein H.G.; Wahl D.; Kuechle C.; Renders L.; Heemann U.; Schmaderer C.; Hoefele J.;
Front. Pediatr. 6:171-171(2018)
Cited for: VARIANTS ATS2 VAL-631 AND CYS-1661;

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.