Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9BX67: Variant p.Cys219Tyr

Junctional adhesion molecule C
Gene: JAM3
Feedback?
Variant information Variant position: help 219 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 Cysteine (C) to Tyrosine (Y) at position 219 (C219Y, p.Cys219Tyr). 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 medium size and polar (C) to large size and aromatic (Y) 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 HDBSCC; the mutant is retained in the endoplasmic reticulum. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 219 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 310 The length of the canonical sequence.
Location on the sequence: help SETGTLVFTAVHKDDSGQYY C IASNDAGSARCEEQEMEVYD 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                         SETGTLVFTAVHKDDSGQYYCIASNDAGSARCEEQEMEVYD

Mouse                         SETGTLVFNAVHKDDSGQYYCIASNDAGAARCEGQDMEVYD

Rat                           SETGTLVFSAVHKEDSGQYYCIASNDAGAARCEGQDMEVYD
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 32 – 310 Junctional adhesion molecule C
Topological domain 32 – 241 Extracellular
Domain 139 – 236 Ig-like C2-type
Disulfide bond 160 – 219



Literature citations
Delineation of the clinical, molecular and cellular aspects of novel JAM3 mutations underlying the autosomal recessive hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts.
Akawi N.A.; Canpolat F.E.; White S.M.; Quilis-Esquerra J.; Morales Sanchez M.; Gamundi M.J.; Mochida G.H.; Walsh C.A.; Ali B.R.; Al-Gazali L.;
Hum. Mutat. 34:498-505(2013)
Cited for: VARIANTS HDBSCC LYS-116 AND TYR-219; CHARACTERIZATION OF VARIANT HDBSCC TYR-219; FUNCTION; SUBCELLULAR LOCATION;
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.