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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P29400: Variant p.Leu1649Arg

Collagen alpha-5(IV) chain
Gene: COL4A5
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Variant information Variant position: help 1649 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help 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: help From Leucine (L) to Arginine (R) at position 1649 (L1649R, p.Leu1649Arg). 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: help Change from medium size and hydrophobic (L) to large size and basic (R) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -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: help In ATS1; adult type. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 1649 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 1685 The length of the canonical sequence.
Location on the sequence: help FIECHGRGTCNYYANSYSFW L ATVDVSDMFSKPQSETLKAG 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         FIECHGRGTCNYYANSYSFWLATVDVSDMFSKPQSETLKAG

                              FIECHGRGTCNYYANSYSFWLATVDVSDMFSKPQSETLKAG
Sequence annotation in neighborhood: help 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 27 – 1685 Collagen alpha-5(IV) chain
Domain 1461 – 1685 Collagen IV NC1
Disulfide bond 1586 – 1681 Or C-1586 with C-1678
Disulfide bond 1620 – 1678 Or C-1620 with C-1681
Cross 1667 – 1667 S-Lysyl-methionine sulfilimine (Lys-Met) (interchain with M-1549)
Beta strand 1645 – 1650



Literature citations
A mutation causing Alport syndrome with tardive hearing loss is common in the western United States.
Barker D.F.; Pruchno C.J.; Jiang X.; Atkin C.L.; Stone E.M.; Denison J.C.; Fain P.R.; Gregory M.C.;
Am. J. Hum. Genet. 58:1157-1165(1996)
Cited for: VARIANT ATS1 ARG-1649; High mutation detection rate in the COL4A5 collagen gene in suspected Alport syndrome using PCR and direct DNA sequencing.
Martin P.; Heiskari N.; Zhou J.; Leinonen A.; Tumelius T.; Hertz J.M.; Barker D.F.; Gregory M.C.; Atkin C.L.; Styrkarsdottir U.; Neumann H.; Springate J.; Shows T.B.; Pettersson E.; Tryggvason K.;
J. Am. Soc. Nephrol. 9:2291-2301(1998)
Cited for: VARIANTS ATS1 VAL-420; 456-PRO--PRO-458 DEL; ASP-573; ASP-624; ASP-635; 802-GLY--PRO-807 DEL; ARG-869; CYS-941; SER-1030; SER-1066; ASP-1143; ARG-1196; GLU-1261; SER-1357 AND ARG-1649; Efficient detection of Alport syndrome COL4A5 mutations with multiplex genomic PCR-SSCP.
Barker D.F.; Denison J.C.; Atkin C.L.; Gregory M.C.;
Am. J. Med. Genet. 98:148-160(2001)
Cited for: VARIANTS ATS1 ARG-192; ARG-292; ASP-295; ARG-325; ARG-558; VAL-603; ASP-624; ASP-629; GLU-722; VAL-898; ALA-1006; VAL-1006; ASP-1244; ARG-1649 AND PRO-1677; VARIANT SER-444;
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.