UniProtKB/Swiss-Prot Q9Y4G2: Variant p.Arg714Cys

Pleckstrin homology domain-containing family M member 1
Gene: PLEKHM1
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Variant information Variant position:

714 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 Arginine (R) to Cysteine (C) at position 714 (R714C, p.Arg714Cys). 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 large size and basic (R) to medium size and polar (C) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-3 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 OPTA3; uncertain significance. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs559224144 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

1056 The length of the canonical sequence.
Location on the sequence:

MDRTWMPYIFSLSLEALKCF R IRNNEKMLSDSHGVETIRDI 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                         MDRTWMPYIFSLSLEALKCFRIRNNEKMLSDSHGVETIRDI

Mouse                         ADRTWVPYIFSLSLESLKCFRVRNNEKMLSDSHGVETIRDI

Rat                           ADRTWIPYIFSLSLESLKCFRVRNNEKMLSDSHGVETIRDI

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 – 1056	Pleckstrin homology domain-containing family M member 1
Domain	683 – 777	PH 2
Region	654 – 1056	Interaction with RAB7A
Mutagenesis	729 – 729	E -> A. Disrupts interaction with RAB7A.

Literature citations
A new heterozygous mutation (R714C) of the osteopetrosis gene, pleckstrin homolog domain containing family M (with run domain) member 1 (PLEKHM1), impairs vesicular acidification and increases TRACP secretion in osteoclasts.
Del Fattore A.; Fornari R.; Van Wesenbeeck L.; de Freitas F.; Timmermans J.P.; Peruzzi B.; Cappariello A.; Rucci N.; Spera G.; Helfrich M.H.; Van Hul W.; Migliaccio S.; Teti A.;
J. Bone Miner. Res. 23:380-391(2008)
Cited for: INVOLVEMENT IN OPTA3; VARIANT OPTA3 CYS-714;

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.