UniProtKB/Swiss-Prot O00411: Variant p.Pro810Ser

DNA-directed RNA polymerase, mitochondrial
Gene: POLRMT
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Variant information Variant position:

810 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 Proline (P) to Serine (S) at position 810 (P810S, p.Pro810Ser). 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 hydrophobic (P) to small size and polar (S) 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:

In COXPD55; uncertain significance; results in decreased transcription of mitochondrial DNA in vitro. Any additional useful information about the variant.

Sequence information Variant position:

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

1230 The length of the canonical sequence.
Location on the sequence:

RDRVFWLPHNMDFRGRTYPC P PHFNHLGSDVARALLEFAQG 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                         RDRVFWLPHNMDFRGRTYPCPPHFNHLGSDVARALLEFAQG

Mouse                         RHRVFWLPHNMDFRGRTYPCPPHFNHLGSDLARALLEFAEG

Baker's yeast                 LGEKLYFPHNLDFRGRAYPLSPHFNHLGNDMSRGLLIFWHG

Fission yeast                 LNEKFYFPHSLDFRGRAYPLSSHLHHVSNDVCRGLLEFSTG

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	42 – 1230	DNA-directed RNA polymerase, mitochondrial
Region	802 – 1230	Mediates interaction with TEFM

Literature citations
POLRMT mutations impair mitochondrial transcription causing neurological disease.
Olahova M.; Peter B.; Szilagyi Z.; Diaz-Maldonado H.; Singh M.; Sommerville E.W.; Blakely E.L.; Collier J.J.; Hoberg E.; Stranecky V.; Hartmannova H.; Bleyer A.J.; McBride K.L.; Bowden S.A.; Korandova Z.; Pecinova A.; Ropers H.H.; Kahrizi K.; Najmabadi H.; Tarnopolsky M.A.; Brady L.I.; Weaver K.N.; Prada C.E.; Ounap K.; Wojcik M.H.; Pajusalu S.; Syeda S.B.; Pais L.; Estrella E.A.; Bruels C.C.; Kunkel L.M.; Kang P.B.; Bonnen P.E.; Mracek T.; Kmoch S.; Gorman G.S.; Falkenberg M.; Gustafsson C.M.; Taylor R.W.;
Nat. Commun. 12:1135-1135(2021)
Cited for: VARIANTS COXPD55 149-GLN--SER-1230 DEL; ASP-250; SER-566; PHE-611; LEU-641; 742-PRO--PRO-747 DEL; SER-810; ASN-870; 925-CYS--SER-1230 DEL; CYS-1013 AND PHE-1193; CHARACTERIZATION OF VARIANTS COXPD55 ASP-250; PHE-611; LEU-641; 742-PRO--PRO-747 DEL; SER-810; ASN-870 AND CYS-1013; INVOLVEMENT IN COXPD55; 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.