UniProtKB/Swiss-Prot O60673: Variant p.Thr1224Ile

DNA polymerase zeta catalytic subunit
Gene: REV3L
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Variant information Variant position:

1224 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 Threonine (T) to Isoleucine (I) at position 1224 (T1224I, p.Thr1224Ile). 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 (T) to medium size and hydrophobic (I) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-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
Other resources:

Links to websites of interest for the variant.

Variant rs462779 [ dbSNP | Ensembl ]

Sequence information Variant position:

1224 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

3130 The length of the canonical sequence.
Location on the sequence:

GKKKPRAKQKTNEKGTSRKH T TLKDEKIKSQSGAEVKFVLK 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                         GKKKPRAKQK--TNEKGTSRKHTTLKDEKIKSQSGAEVKFVLK

Mouse                         GKKKPRAKQKQRANEKSLSRKHAIPADEKMKPHSEAE--LT

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.

Type	Positions	Description
Chain	1 – 3130	DNA polymerase zeta catalytic subunit
Region	1162 – 1231	Disordered
Compositional bias	1195 – 1231	Basic and acidic residues

Literature citations
A human homolog of the Saccharomyces cerevisiae REV3 gene, which encodes the catalytic subunit of DNA polymerase zeta.
Gibbs P.E.M.; McGregor W.G.; Maher V.M.; Nisson P.; Lawrence C.W.;
Proc. Natl. Acad. Sci. U.S.A. 95:6876-6880(1998)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANT ILE-1224; A full-length cDNA of hREV3 is predicted to encode DNA polymerase zeta for damage-induced mutagenesis in humans.
Lin W.; Wu X.; Wang Z.;
Mutat. Res. 433:89-98(1999)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANT ILE-1224; Cloning and characterization of hREV3, the human homolog of S. cerevisiae REV3.
Murakumo Y.; Rasio D.; Roth T.; Negrini M.; Croce C.M.; Fishel R.;
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANT ILE-1224; Alternative splicing, genomic structure, and fine chromosome localization of REV3L.
Morelli C.; Mungall A.J.; Negrini M.; Barbanti-Brodano G.; Croce C.M.;
Cytogenet. Cell Genet. 83:18-20(1998)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2); VARIANTS HIS-231; CYS-1156; ILE-1224 AND GLU-1540; Submission
NIEHS SNPs program;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS PRO-397; THR-693; GLN-962; CYS-1156; ILE-1224; THR-1302; HIS-1309; THR-1339; PRO-1469; LEU-1576; ASN-1713; THR-1724; SER-1791; HIS-1812; ARG-1923; HIS-1970; VAL-2015; MET-2075; GLN-2762 AND ILE-3064; A human REV7 homolog that interacts with the polymerase zeta catalytic subunit hREV3 and the spindle assembly checkpoint protein hMAD2.
Murakumo Y.; Roth T.; Ishii H.; Rasio D.; Numata S.; Croce C.M.; Fishel R.;
J. Biol. Chem. 275:4391-4397(2000)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 70-3130 (ISOFORM 1); VARIANTS HIS-231; CYS-1156; ILE-1224 AND GLU-1540; INTERACTION WITH MAD2L2;

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.