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UniProtKB/Swiss-Prot P09884: Variant p.Pro1381Leu

DNA polymerase alpha catalytic subunit
Gene: POLA1
Variant information

Variant position:  1381
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  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:  From Proline (P) to Leucine (L) at position 1381 (P1381L, p.Pro1381Leu).
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:  Similar physico-chemical property. Both residues are medium size and hydrophobic.
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -3
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 VEODS; no effect on protein abundance; decreased DNA replication.
Any additional useful information about the variant.

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



Sequence information

Variant position:  1381
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  1462
The length of the canonical sequence.

Location on the sequence:   PLQFSRTGPLCPACMKATLQ  P EYSDKSLYTQLCFYRYIFDA
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                         PLQFSRTGPLCPACMKATLQPEYSDKSLYTQLCFYRYIFDA

Mouse                         PLHFSRNGPLCPVCMKAVLRPEYSDKSLYTQLCFYRYIFDA

Xenopus laevis                PLSFSRNGPICQACSKATLRSEYPEKALYTQLCFYRFIFDW

Drosophila                    SLRKKSHRPLCQKCRSGSLLRQYTERDLYNQLCYLRFMFD-

Slime mold                    ETSYRCARPQC----RGKMIQIMTSSKLFNQISFFSKLFRN

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 1 – 1462 DNA polymerase alpha catalytic subunit
Metal binding 1371 – 1371 Iron-sulfur (4Fe-4S)
Metal binding 1374 – 1374 Iron-sulfur (4Fe-4S)
Beta strand 1372 – 1383


Literature citations

Defective DNA Polymerase alpha-Primase Leads to X-Linked Intellectual Disability Associated with Severe Growth Retardation, Microcephaly, and Hypogonadism.
Van Esch H.; Colnaghi R.; Freson K.; Starokadomskyy P.; Zankl A.; Backx L.; Abramowicz I.; Outwin E.; Rohena L.; Faulkner C.; Leong G.M.; Newbury-Ecob R.A.; Challis R.C.; Ounap K.; Jaeken J.; Seuntjens E.; Devriendt K.; Burstein E.; Low K.J.; O'Driscoll M.;
Am. J. Hum. Genet. 104:957-967(2019)
Cited for: INVOLVEMENT IN VEODS; VARIANTS VEODS SER-79; ARG-110 AND LEU-1381; CHARACTERIZATION OF VARIANTS VEODS SER-79 AND LEU-1381; FUNCTION;

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.