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UniProtKB/Swiss-Prot P39210: Variant p.Ala23Pro

Protein Mpv17
Gene: MPV17
Variant information

Variant position:  23
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  LP/P [Disclaimer]
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 Alanine (A) to Proline (P) at position 23 (A23P, p.Ala23Pro).
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 hydrophobic (A) 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

Variant description:  In MTDPS6; results in altered ribonucleotide incorporation in mtDNA from patient fibroblasts.
Any additional useful information about the variant.



Sequence information

Variant position:  23
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  176
The length of the canonical sequence.

Location on the sequence:   LWRAYQRALAAHPWKVQVLT  A GSLMGLGDIISQQLVERRGL
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                         LWRAYQRALAAHPWKVQVLTAGSLMGLGDIISQQLVERRGL

Mouse                         LWRAYQRALAAHPWKVQVLTAGSLMGVGDMISQQLVERRGL

Rat                           LWRAYQRALAAHPWKVQVLTAGSLMGLGDIISQQLVERRGL

Bovine                        LWRAYQRALTAHPWKVQVLTAGSLMGLGDVISQQLVERRGL

Xenopus laevis                LWRAYQRLLGAHPWKVQIVTAGSLVGVGDVISQQLLERKGL

Zebrafish                     LWRSYQALMAKHPWKVQIITAGSLVGVGDVISQQLIERRGL

Caenorhabditis elegans        IILFIRRRLATNPLSTQMCIAGTISGSGDCLAQYLSHN---

Drosophila                    RLKAYLK---------DGINVAAVMCLGDTISQFFFDKKSL

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 – 176 Protein Mpv17
Transmembrane 18 – 38 Helical


Literature citations

Clinical, biochemical, cellular and molecular characterization of mitochondrial DNA depletion syndrome due to novel mutations in the MPV17 gene.
Uusimaa J.; Evans J.; Smith C.; Butterworth A.; Craig K.; Ashley N.; Liao C.; Carver J.; Diot A.; Macleod L.; Hargreaves I.; Al-Hussaini A.; Faqeih E.; Asery A.; Al Balwi M.; Eyaid W.; Al-Sunaid A.; Kelly D.; van Mourik I.; Ball S.; Jarvis J.; Mulay A.; Hadzic N.; Samyn M.; Baker A.; Rahman S.; Stewart H.; Morris A.A.; Seller A.; Fratter C.; Taylor R.W.; Poulton J.;
Eur. J. Hum. Genet. 22:184-191(2014)
Cited for: VARIANTS MTDPS6 ARG-21; PRO-23; PRO-36; TRP-41; 44-GLN--LEU-176 DEL; ARG-64; PRO-93 AND LEU-98;

Nucleotide pools dictate the identity and frequency of ribonucleotide incorporation in mitochondrial DNA.
Berglund A.K.; Navarrete C.; Engqvist M.K.; Hoberg E.; Szilagyi Z.; Taylor R.W.; Gustafsson C.M.; Falkenberg M.; Clausen A.R.;
PLoS Genet. 13:E1006628-E1006628(2017)
Cited for: CHARACTERIZATION OF VARIANTS MTDPS6 PRO-23 AND PRO-93;

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.