Variant position: 325 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1685 The length of the canonical sequence.
Location on the sequence:
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 ENGQPGIPGLPGDPGYPGEP GRDGEKGQKGDTGPPGPPGLV
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
27 – 1685 Collagen alpha-5(IV) chain
42 – 1456 Triple-helical region
Substitution of arginine for glycine 325 in the collagen alpha 5 (IV) chain associated with X-linked Alport syndrome: characterization of the mutation by direct sequencing of PCR-amplified lymphoblast cDNA fragments.
Knebelmann B.; Deschenes G.; Gros F.; Hors M.-C.; Gruenfeld J.-P.; Tryggvason K.; Gubler M.-C.; Antignac C.;
Am. J. Hum. Genet. 51:135-142(1992)
Cited for: VARIANT ATS1 ARG-325;
Missense mutations in the COL4A5 gene in patients with X-linked Alport syndrome.
Neri T.M.; Zanelli P.; de Palma G.; Savi M.; Rossetti S.; Turco A.E.; Pignatti G.F.; Galli L.; Bruttini M.; Renieri A.; Mingarelli R.; Trivelli A.; Pinciaroli A.R.; Ragaiolo M.; Rizzoni G.F.; de Marchi M.;
Hum. Mutat. Suppl. 1:S106-S109(1998)
Cited for: VARIANTS ATS1 ARG-174; ARG-177; ARG-325; CYS-1410; TRP-1421; THR-1517 AND ASP-1596;
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;
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.