UniProtKB/Swiss-Prot P15918: Variant p.His375Asp

V(D)J recombination-activating protein 1
Gene: RAG1
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Variant information Variant position:

375 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

US 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 Histidine (H) to Aspartate (D) at position 375 (H375D, p.His375Asp). 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 (H) to medium size and acidic (D) 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
Variant description:

Found in a patient with T and B cell immunodeficiency and progressive multifocal leukoencephalopathy; uncertain significance. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs773272902 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

1043 The length of the canonical sequence.
Location on the sequence:

MVKCPAKECNEEVSLEKYNH H ISSHKESKEIFVHINKGGRP 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                         MVKCPAKECNEEVSLEKYNHHISSH---KESKEI----------FVHINKGGRP

Mouse                         MVKCPAQDCNEEVSLEKYNHHVSSH---KESKET-------

Pig                           MVKCPAKECNEEISLEKYNHHISSH---KESKET-------

Rabbit                        IVKCSAPECNEEVSLEKYNHHVSSH---KESRDT-------

Chicken                       SIRCPVPECDEEILHGKYGQHFSNH---KEMKDKEL-----

Xenopus laevis                LLKCTVSGCDEEISLGKYSHHISKH---KETKGKEV-----

Zebrafish                     PLLCPSEECSDWVRLDSFREHCLNHYREKESQEEQTPSEQN

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 – 1043	V(D)J recombination-activating protein 1
Zinc finger	354 – 383	RAG1-type
Binding site	358 – 358
Binding site	363 – 363
Binding site	375 – 375
Binding site	379 – 379

Literature citations
Evaluation of RAG1 mutations in an adult with combined immunodeficiency and progressive multifocal leukoencephalopathy.
Schroeder C.; Baerlecken N.T.; Pannicke U.; Doerk T.; Witte T.; Jacobs R.; Stoll M.; Schwarz K.; Grimbacher B.; Schmidt R.E.; Atschekzei F.;
Clin. Immunol. 179:1-7(2017)
Cited for: VARIANTS ASP-375 AND CYS-474; CHARACTERIZATION OF VARIANT CYS-474;

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.