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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P40763: Variant p.Phe621Val

Signal transducer and activator of transcription 3
Gene: STAT3
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Variant information Variant position: help 621 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 Phenylalanine (F) to Valine (V) at position 621 (F621V, p.Phe621Val). 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 large size and aromatic (F) to medium size and hydrophobic (V) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -1 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 HIES1. Any additional useful information about the variant.


Sequence information Variant position: help 621 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 770 The length of the canonical sequence.
Location on the sequence: help KPPGTFLLRFSESSKEGGVT F TWVEKDISGKTQIQSVEPYT 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                         KPPGTFLLRFSESSKEGGVTFTWVEKDISGKTQIQSVEPYT

Mouse                         KPPGTFLLRFSESSKEGGVTFTWVEKDISGKTQIQSVEPYT

Rat                           KPPGTFLLRFSESSKEGGVTFTWVEKDISGKTQIQSVEPYT

Pig                           KPPGTFLLRFSESSKEGGVTFTWVEKDISGKTQIQSVEPYT

Bovine                        KPPGTCLLRFSESSKEGGVTFTWVEKDISGKTQIQSVEPYT

Chicken                       KPPGTFLLRFSESSKEGGITFTWVEKDISGKTQIQSVEPYT
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 2 – 770 Signal transducer and activator of transcription 3
Domain 580 – 670 SH2
Modified residue 601 – 601 Allysine; alternate
Modified residue 601 – 601 N6-acetyllysine; alternate
Modified residue 615 – 615 Allysine; alternate
Modified residue 615 – 615 N6-acetyllysine; alternate
Modified residue 631 – 631 Allysine; alternate
Modified residue 631 – 631 N6-acetyllysine; alternate
Modified residue 640 – 640 Phosphotyrosine; by TYK2
Beta strand 619 – 626



Literature citations
STAT3 mutations in the hyper-IgE syndrome.
Holland S.M.; DeLeo F.R.; Elloumi H.Z.; Hsu A.P.; Uzel G.; Brodsky N.; Freeman A.F.; Demidowich A.; Davis J.; Turner M.L.; Anderson V.L.; Darnell D.N.; Welch P.A.; Kuhns D.B.; Frucht D.M.; Malech H.L.; Gallin J.I.; Kobayashi S.D.; Whitney A.R.; Voyich J.M.; Musser J.M.; Woellner C.; Schaffer A.A.; Puck J.M.; Grimbacher B.;
N. Engl. J. Med. 357:1608-1619(2007)
Cited for: VARIANTS HIES1 GLN-382; LEU-382; TRP-382; LEU-384; SER-384; GLN-423; VAL-463 DEL; ASN-611; VAL-621; ILE-622; LEU-637; MET-637; GLN-644 DEL AND CYS-657;
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.