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UniProtKB/Swiss-Prot Q9P0K1: Variant p.Cys401Tyr

Disintegrin and metalloproteinase domain-containing protein 22
Gene: ADAM22
Variant information

Variant position:  401
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  US
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 Cysteine (C) to Tyrosine (Y) at position 401 (C401Y, p.Cys401Tyr).
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 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:  -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:  In DEE61; unknown pathological significance; loss of interaction with LGI1; no effect on DLG4-binding, nor on subcellular location.
Any additional useful information about the variant.

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



Sequence information

Variant position:  401
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  906
The length of the canonical sequence.

Location on the sequence:   ISDKRKLASGECKCEDTWSG  C IMGDTGYYLPKKFTQCNIEE
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                         ISDKRKLASGECKCEDTWSGCIMGDTGYYLPKKFTQCNIEE

Mouse                         ISDKRKLASGECKCEDTWSGCIMGDTGYYLPKKFTQCNVEE

Xenopus laevis                FSDKKKLLSGECKCEDTWSGCIMGDIGYYLPSKFSVCNIEE

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 223 – 906 Disintegrin and metalloproteinase domain-containing protein 22
Topological domain 223 – 736 Extracellular
Domain 239 – 438 Peptidase M12B
Disulfide bond 349 – 433
Disulfide bond 392 – 417
Disulfide bond 394 – 401


Literature citations

Dysfunctional ADAM22 implicated in progressive encephalopathy with cortical atrophy and epilepsy.
Muona M.; Fukata Y.; Anttonen A.K.; Laari A.; Palotie A.; Pihko H.; Loennqvist T.; Valanne L.; Somer M.; Fukata M.; Lehesjoki A.E.;
Neurol. Genet. 2:E46-E46(2016)
Cited for: INVOLVEMENT IN DEE61; VARIANT DEE61 TYR-401; INTERACTION WITH LGI1 AND DLG4; SUBCELLULAR LOCATION; CHARACTERIZATION OF VARIANT DEE61 TYR-401;

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.