UniProtKB/Swiss-Prot Q71F56: Variant p.Arg1872His

Mediator of RNA polymerase II transcription subunit 13-like
Gene: MED13L
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Variant information Variant position:

1872 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 Arginine (R) to Histidine (H) at position 1872 (R1872H, p.Arg1872His). 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 large size and basic (R) to medium size and polar (H) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

0 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 a patient with dextro-looped transposition of the great arteries; uncertain significance. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs28940310 [ dbSNP | Ensembl ]

Sequence information Variant position:

1872 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

2210 The length of the canonical sequence.
Location on the sequence:

ETCVVNIALPNRSRRSKVSA R KIGLQKLWEWCIGIVQMTSL 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                         ETCVVNIALPNRSRRSKVSARKIGLQKLWEWCIGIVQMTSL

Mouse                         ETCVVNIALPSRSRKSKVSARKVGLQKLWEWCLGIVQMTSL

Zebrafish                     ETCVISIDVPNRARRKKGSARRQGLQKLWEWCLDLVQMTSL

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 – 2210	Mediator of RNA polymerase II transcription subunit 13-like

Literature citations
Missense mutations and gene interruption in PROSIT240, a novel TRAP240-like gene, in patients with congenital heart defect (transposition of the great arteries).
Muncke N.; Jung C.; Ruediger H.; Ulmer H.; Roeth R.; Hubert A.; Goldmuntz E.; Driscoll D.; Goodship J.; Schoen K.; Rappold G.;
Circulation 108:2843-2850(2003)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; TISSUE SPECIFICITY; VARIANT MRFACD GLY-251; VARIANTS HIS-1872 AND GLY-2023; CHROMOSOMAL TRANSLOCATION;

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.