Home  |  Contact

UniProtKB/Swiss-Prot Q93074: Variant p.Gln1974His

Mediator of RNA polymerase II transcription subunit 12
Gene: MED12
Variant information

Variant position:  1974
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Unclassified
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  From Glutamine (Q) to Histidine (H) at position 1974 (Q1974H, p.Gln1974His).
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 polar.
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:  Found in a family with X-linked intellectual disability; unknown pathological significance.
Any additional useful information about the variant.

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



Sequence information

Variant position:  1974
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  2177
The length of the canonical sequence.

Location on the sequence:   QQHTGPAGTMVPPSYSSQPY  Q STHPSTNPTLVDPTRHLQQR
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                         QQ--HTGPAGTMVPPSYSSQPYQST---HPST--NPTLVDPT----RHL----------QQR

Chimpanzee                    QQ--HTGPAGTMVPPSYSSQPYQST---HPST--NPTLVDP

Mouse                         QQ--HTGPAGTMVPPSYSSQPYQST---HPST--NPTLVDP

Zebrafish                     QP--HPSQTPGMVPNSYGNQGFQTG---HPAT--NPTMVDS

Caenorhabditis elegans        PGPIQTGQSTQQQIPAQSQQQYNSG---RPQMHTTPTKNDM

Drosophila                    PQ--QNAQQQQMNPNQQQQQQFMRGGNMRPGM--APNQMNQ

Slime mold                    PQ-----QLQQQKPQTQQQQQQQQQ---QQQQQQQQQQQQQ

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 – 2177 Mediator of RNA polymerase II transcription subunit 12
Region 1616 – 2051 Interaction with CTNNB1 and GLI3
Compositional bias 1900 – 2168 Gln-rich
Modified residue 1994 – 1994 Asymmetric dimethylarginine


Literature citations

Nonsyndromic X-linked intellectual deficiency in three brothers with a novel MED12 missense mutation [c.5922G>T (p.Glu1974His)].
Bouazzi H.; Lesca G.; Trujillo C.; Alwasiyah M.K.; Munnich A.;
Clin. Case Rep. 3:604-609(2015)
Cited for: VARIANT HIS-1974;

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.