UniProtKB/Swiss-Prot O75326 : Variant p.Arg347Leu
Semaphorin-7A Gene: SEMA7A
Variant information
Variant position: 347 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: The variants are classified into three categories: Disease, Polymorphism and Unclassified.Disease: Variants implicated in disease according to literature reports. Polymorphism: Variants not reported to be implicated in disease. Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.
Residue change: 347 (R347L, p.Arg347Leu).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: The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: 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).following page
Polymorphism: 614745 ]. Three different JMH phenotypes have been identified based on the presence or absence of the high-frequency JMH antigen: JMH-weak, JMH-negative, and JMH-variant. The JMH-weak and -negative phenotypes can be either acquired or inherited and are characterized by a reduction or complete loss of JMH expression on red blood cells. Individuals with the JMH-variant phenotype are usually JMH-positive and have alloantibodies compatible with JMH-negative red blood cells. The JMH-variant phenotype results from rare SEMA7A missense variants.Additional information on the polymorphism described.
Variant description: Any additional useful information about the variant.
Other resources: Links to websites of interest for the variant.
Sequence information
Variant position: 347 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 666 The length of the canonical sequence.
Location on the sequence: R TSSLKGYHSSLPNPRPGKCL
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 NPWNYSAVCVYSLGDIDKVFR TSSLKGYHSSLPNPRPGKCL
Mouse NPWNYSAVCVYSLGDIDRVFR TSSLKGYHMGLPNPRPGMCL
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.
Literature citations
A new SEMA7A variant found in Native Americans with alloantibody.
Richard M.; St-Laurent J.; Perreault J.; Long A.; St-Louis M.;
Vox Sang. 100:322-326(2011) Cited for: VARIANT LEU-347;
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.