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UniProtKB/Swiss-Prot P98173: Variant p.Trp213Cys

Protein FAM3A
Gene: FAM3A
Variant information

Variant position:  213
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  LB/B
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 Tryptophan (W) to Cysteine (C) at position 213 (W213C, p.Trp213Cys).
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 large size and aromatic (W) to medium size and polar (C)
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

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



Sequence information

Variant position:  213
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  230
The length of the canonical sequence.

Location on the sequence:   NKSPFEQHVKNSKHSNKYEG  W PEALEMEGCIPRRSTAS
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                         NKSPFEQHVKNSKHSNKYEGWPEALEMEGCIPRRSTAS

Mouse                         NKSPFEQHMKNSKHTNKYEGWPEALEMEGCIPRRSIAG

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 34 – 230 Protein FAM3A
Disulfide bond 65 – 222


Literature citations

Transcriptional organization of a 450-kb region of the human X chromosome in Xq28.
Bione S.; Tamanini F.; Maestrini E.; Tribioli C.; Poustka A.; Torri G.; Rivella S.; Toniolo D.;
Proc. Natl. Acad. Sci. U.S.A. 90:10977-10981(1993)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANT CYS-213;

Submission
Zollo M.; Mazzarella R.; Bione S.; Toniolo D.; Schlessinger D.; D'Urso M.; Chen E.Y.;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANT CYS-213;

Long-range sequence analysis in Xq28: thirteen known and six candidate genes in 219.4 kb of high GC DNA between the RCP/GCP and G6PD loci.
Chen E.Y.; Zollo M.; Mazzarella R.A.; Ciccodicola A.; Chen C.-N.; Zuo L.; Heiner C.; Burough F.W.; Ripetto M.; Schlessinger D.; D'Urso M.;
Hum. Mol. Genet. 5:659-668(1996)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANT CYS-213;

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.