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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q14563: Variant p.Val435Ile

Semaphorin-3A
Gene: SEMA3A
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Variant information Variant position: help 435 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 Valine (V) to Isoleucine (I) at position 435 (V435I, p.Val435Ile). 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 Similar physico-chemical property. Both residues are medium size and hydrophobic. The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 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: help In HH16; phenotype consistent with Kallmann syndrome; digenic; found in patients also carrying mutation Cys-268 in PROKR2 or mutation Arg-687 in FGFR1. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 435 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 771 The length of the canonical sequence.
Location on the sequence: help PMNNRPIVIKTDVNYQFTQI V VDRVDAEDGQYDVMFIGTDV 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                         PMNNRPIVIKTDVNYQFTQIVVDRVDAEDGQYDVMFIGTDV

Mouse                         PINNRPIMIKTDVNYQFTQIVVDRVDAEDGQYDVMFIGTDV

Rat                           PINNRPIMIKTDVNYQFTQIVVDRVDAEDGQYDVMFIGTDV

Chicken                       PINSRPIMIKTDVDYQFTQIVVDRVDAEDGQYDVMFIGTDI
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 21 – 771 Semaphorin-3A
Domain 31 – 514 Sema



Literature citations
SEMA3A, a gene involved in axonal pathfinding, is mutated in patients with Kallmann syndrome.
Hanchate N.K.; Giacobini P.; Lhuillier P.; Parkash J.; Espy C.; Fouveaut C.; Leroy C.; Baron S.; Campagne C.; Vanacker C.; Collier F.; Cruaud C.; Meyer V.; Garcia-Pinero A.; Dewailly D.; Cortet-Rudelli C.; Gersak K.; Metz C.; Chabrier G.; Pugeat M.; Young J.; Hardelin J.P.; Prevot V.; Dode C.;
PLoS Genet. 8:E1002896-E1002896(2012)
Cited for: VARIANTS HH16 TRP-66; SER-153; VAL-400; ILE-435; ALA-688; GLN-730 AND HIS-733; CHARACTERIZATION OF VARIANTS HH16 TRP-66; SER-153; VAL-400; ILE-435; ALA-688; GLN-730 AND HIS-733; The prevalence of CHD7 missense versus truncating mutations is higher in patients with Kallmann syndrome than in typical CHARGE patients.
Marcos S.; Sarfati J.; Leroy C.; Fouveaut C.; Parent P.; Metz C.; Wolczynski S.; Gerard M.; Bieth E.; Kurtz F.; Verier-Mine O.; Perrin L.; Archambeaud F.; Cabrol S.; Rodien P.; Hove H.; Prescott T.; Lacombe D.; Christin-Maitre S.; Touraine P.; Hieronimus S.; Dewailly D.; Young J.; Pugeat M.; Hardelin J.P.; Dode C.;
J. Clin. Endocrinol. Metab. 99:E2138-2143(2014)
Cited for: VARIANTS HH16 TRP-66; ARG-82; SER-153; THR-342; ILE-435; GLY-447; TRP-484; MET-657 AND GLN-730;
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.