UniProtKB/Swiss-Prot P19447: Variant p.Ser735Pro

General transcription and DNA repair factor IIH helicase/translocase subunit XPB
Gene: ERCC3
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Variant information Variant position:

735 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 Serine (S) to Proline (P) at position 735 (S735P, p.Ser735Pro). 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 small size and polar (S) to medium size and hydrophobic (P) 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 rs4150522 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

KVLAATDLDAEEEVVAGEFG S RSSQASRRFGTMSSMSGADD 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                         KVL----AATDLDAEEEVVAGEF-----GSRS---SQASRRF------GTMSSMSGADD

Mouse                         KVL----AATDLDAEEEVVAGEF-----GSRS---GQASRR

Rat                           KVL----AATDLDAEEEVVAGEF-----GSRS---GQASRR

Bovine                        KVL----AATDLDAEEEVVAGEF-----GSKS---SQVSRR

Chicken                       KVL----QASDLDAEEEVVAGEY-----GSKS---VQMSRR

Zebrafish                     KVL----AASDLDAEEEVVMGEV-----GGKP----QFSRR

Drosophila                    LVL----SASDLDCEDEKLPGEP-----GYRPSGSGGAVRR

Slime mold                    QVL----GEGEDSGKNEILEEDFDDITRGAKK---SKSSAP

Fission yeast                 EVLLQNEEAADLDDGEDTSFGS------RSLSRAPAKAKRS

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 – 782	General transcription and DNA repair factor IIH helicase/translocase subunit XPB
Modified residue	751 – 751	Phosphoserine; by CK2
Mutagenesis	751 – 751	S -> A. Restores NER in XPB/ERCC3-defective cells, does not inhibit 5'-incision by ERCC1-XPF, wild-type transcription and helicase activities.
Mutagenesis	751 – 751	S -> E. Does not restore NER in XPB/ERCC3-defective cells, inhibits 5'-incision by ERCC1-XPF, wild-type transcription and helicase activities.

Literature citations
Submission
NIEHS SNPs program;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS LEU-704 AND PRO-735;

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.