UniProtKB/Swiss-Prot P39210 : Variant p.Gln93Pro
Mitochondrial inner membrane protein Mpv17
Gene: MPV17
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Variant information
Variant position:
93
The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:
LP/P [Disclaimer : Variants classification is intended for research purposes only, not for clinical and diagnostic use . The label disease variant is assigned according to literature reports on probable disease-association that can be based on theoretical reasons. This label must not be considered as a definitive proof for the pathogenic role of a variant. ]
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 Glutamine (Q) to Proline (P) at position 93 (Q93P, p.Gln93Pro).
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 (Q) 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:
93
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:
LDRFIPGTTKVDALKKMLLD
Q GGFAPCFLGCFLPLVGALNG
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 LDRFIPGTTKV--DALKKMLLDQ GGFAPCFLGCFLPLVGALNG
Mouse LDHLIPGTTKV--HALKKMLLDQ GGFAPCFLGCFLPLVGIL
Rat LDHLIPGTTKV--NALKKMLLDQ GGFAPCFLGCFLPLVGVL
Bovine LDRLIPGTTKV--DALKKMLLDQ GGFAPCFLGCFLPLVGTL
Xenopus laevis LDRIIPGSGKP--VALKKMLLDQ VAFAPCFLGCFLSIASAL
Zebrafish LDKLVTGGTKS--AALKKMLVDQ VGFAPCFLGAFLGITGTL
Caenorhabditis elegans LEKVKGNNKSL--LLVKKLCIDQ LCFSPCFNAAILFNLRLL
Drosophila LESRVPKTYSPMRRGVTKMLVDQ TLFAPPFTMAMSFLVPLS
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 – 176
Mitochondrial inner membrane protein Mpv17
Site
92 – 92
Determines ion selectivity
Mutagenesis
80 – 80
T -> A. Does not affect gating properties of the channel.
Mutagenesis
92 – 92
D -> K. Affects ion selectivity of the channel.
Mutagenesis
99 – 99
C -> A. Does not affect conductance and gating properties of the channel.
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;
MPV17-related mitochondrial DNA maintenance defect: New cases and review of clinical, biochemical, and molecular aspects.
El-Hattab A.W.; Wang J.; Dai H.; Almannai M.; Staufner C.; Alfadhel M.; Gambello M.J.; Prasun P.; Raza S.; Lyons H.J.; Afqi M.; Saleh M.A.M.; Faqeih E.A.; Alzaidan H.I.; Alshenqiti A.; Flore L.A.; Hertecant J.; Sacharow S.; Barbouth D.S.; Murayama K.; Shah A.A.; Lin H.C.; Wong L.C.;
Hum. Mutat. 39:461-470(2018)
Cited for: VARIANTS MTDPS6 ARG-21; TRP-50; LYS-88 DEL; LEU-91 DEL; GLY-92; PRO-93; ASP-95; LEU-98; 99-CYS--LEU-176 DEL AND MET-154;
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.