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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P53708: Variant p.Gly407Arg

Integrin alpha-8
Gene: ITGA8
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Variant information Variant position: help 407 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 Glycine (G) to Arginine (R) at position 407 (G407R, p.Gly407Arg). 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 glycine (G) 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 RHDA1; the mutant does not localize at the cell membrane. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 407 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 1063 The length of the canonical sequence.
Location on the sequence: help GSAMAHLGDLNQDGYNDIAI G VPFAGKDQRGKVLIYNGNKD 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                         GSAMAHLGDLNQDGYNDIAIGVPFAGKDQRGKVLIYNGNKD

Mouse                         GSSVAHLGDLNQDGYNDIAIGVPFAGKDQRGKVLIYNGNPR

Chicken                       GSAITHLGDLNQDGYNDIAVGAPFAGEDRRGKVLIYNGYSN
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 39 – 1063 Integrin alpha-8
Chain 39 – 906 Integrin alpha-8 heavy chain
Topological domain 39 – 1012 Extracellular
Repeat 373 – 431 FG-GAP 6
Binding site 395 – 395
Binding site 397 – 397
Binding site 399 – 399
Binding site 401 – 401
Binding site 403 – 403



Literature citations
Integrin alpha 8 recessive mutations are responsible for bilateral renal agenesis in humans.
Humbert C.; Silbermann F.; Morar B.; Parisot M.; Zarhrate M.; Masson C.; Tores F.; Blanchet P.; Perez M.J.; Petrov Y.; Khau Van Kien P.; Roume J.; Leroy B.; Gribouval O.; Kalaydjieva L.; Heidet L.; Salomon R.; Antignac C.; Benmerah A.; Saunier S.; Jeanpierre C.;
Am. J. Hum. Genet. 94:288-294(2014)
Cited for: SUBCELLULAR LOCATION; VARIANTS RHDA1 MET-255 AND ARG-407; CHARACTERIZATION OF VARIANT RHDA1 ARG-407;
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.