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UniProtKB/Swiss-Prot P55291: Variant p.Ala122Val

Cadherin-15
Gene: CDH15
Variant information

Variant position:  122
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  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:  From Alanine (A) to Valine (V) at position 122 (A122V, p.Ala122Val).
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:  Change from small size and hydrophobic (A) to medium size and hydrophobic (V)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  0
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:  In MRD3; affects cell-cell adhesion but not surface expression of the protein.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  122
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  814
The length of the canonical sequence.

Location on the sequence:   GKVFLNAMLDREKTDRFRLR  A FALDLGGSTLEDPTDLEIVV
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                         GKVFLNAMLDREKTDRFRLRAFALDLGGSTLEDPTDLEIVV

Mouse                         GRVYLNATLDREKTDRFRLRAFALDLGGSTLEDPTDLEIVV

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.

TypePositionsDescription
Chain 61 – 814 Cadherin-15
Topological domain 61 – 606 Extracellular
Domain 61 – 152 Cadherin 1
Mutagenesis 103 – 103 K -> R. No effect on cell-cell adhesion.
Mutagenesis 109 – 109 M -> T. No effect on cell-cell adhesion.


Literature citations

Alterations in CDH15 and KIRREL3 in patients with mild to severe intellectual disability.
Bhalla K.; Luo Y.; Buchan T.; Beachem M.A.; Guzauskas G.F.; Ladd S.; Bratcher S.J.; Schroer R.J.; Balsamo J.; DuPont B.R.; Lilien J.; Srivastava A.K.;
Am. J. Hum. Genet. 83:703-713(2008)
Cited for: TISSUE SPECIFICITY; CHROMOSOMAL TRANSLOCATION WITH KIRREL3; VARIANTS MRD3 LEU-8; CYS-60; TRP-92 AND VAL-122; MUTAGENESIS OF LYS-103 AND MET-109; CHARACTERIZATION OF VARIANTS MRD3 CYS-60; TRP-92 AND VAL-122;

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.