UniProtKB/Swiss-Prot P39210: Variant p.Gly95Asp

Protein Mpv17
Gene: MPV17
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Variant information Variant position:

95 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 Glycine (G) to Aspartate (D) at position 95 (G95D, p.Gly95Asp). 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 glycine (G) to medium size and acidic (D) 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; uncertain significance. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs1260392202 [ dbSNP | Ensembl ]

Sequence information Variant position:

95 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:

RFIPGTTKVDALKKMLLDQG G FAPCFLGCFLPLVGALNGLS 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                         RFIPGTTKV--DALKKMLLDQGGFAPCFLGCFLPLVGALNGLS

Mouse                         HLIPGTTKV--HALKKMLLDQGGFAPCFLGCFLPLVGILNG

Rat                           HLIPGTTKV--NALKKMLLDQGGFAPCFLGCFLPLVGVLNG

Bovine                        RLIPGTTKV--DALKKMLLDQGGFAPCFLGCFLPLVGTLNG

Xenopus laevis                RIIPGSGKP--VALKKMLLDQVAFAPCFLGCFLSIASALNG

Zebrafish                     KLVTGGTKS--AALKKMLVDQVGFAPCFLGAFLGITGTLNG

Caenorhabditis elegans        KVKGNNKSL--LLVKKLCIDQLCFSPCFNAAILFNLRLLQH

Drosophila                    SRVPKTYSPMRRGVTKMLVDQTLFAPPFTMAMSFLVPLSNG

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	Protein Mpv17
Transmembrane	94 – 114	Helical
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
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.