UniProtKB/Swiss-Prot P22413: Variant p.Arg774Cys

Ectonucleotide pyrophosphatase/phosphodiesterase family member 1
Gene: ENPP1
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Variant information Variant position:

774 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

LB/B 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 774 (R774C, p.Arg774Cys). 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:

Decreased nucleotide phosphodiesterase activity; no effect on localization to plasma membrane. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs28933977 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

SEALLTTNIVPMYQSFQVIW R YFHDTLLRKYAEERNGVNVV 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                         SEALLTTNIVPMYQSFQVIWRYFHDTLLRKYAEERNGVNVV

Mouse                         SEALLTSNIVPMYQSFQVIWHYLHDTLLQRYAHERNGINVV

Rat                           SEALLTSNIVPMYQSFQVIWQYLHDTVLRRYAQERNGVNVV

Caenorhabditis elegans        ERIDVPNNFL-----LKVLDPLQAKSM--EYLNKFGKMYVI

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 – 925	Ectonucleotide pyrophosphatase/phosphodiesterase family member 1
Chain	103 – 925	Ectonucleotide pyrophosphatase/phosphodiesterase family member 1, secreted form
Topological domain	98 – 925	Extracellular
Region	654 – 925	Nuclease-like domain
Disulfide bond	480 – 868
Helix	769 – 788

Literature citations
Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification.
Rutsch F.; Ruf N.; Vaingankar S.; Toliat M.R.; Suk A.; Hohne W.; Schauer G.; Lehmann M.; Roscioli T.; Schnabel D.; Epplen J.T.; Knisely A.; Superti-Furga A.; McGill J.; Filippone M.; Sinaiko A.R.; Vallance H.; Hinrichs B.; Smith W.; Ferre M.; Terkeltaub R.; Nuernberg P.;
Nat. Genet. 34:379-381(2003)
Cited for: VARIANT GACI1 PHE-579; VARIANT CYS-774; The mutational spectrum of ENPP1 as arising after the analysis of 23 unrelated patients with generalized arterial calcification of infancy (GACI).
Ruf N.; Uhlenberg B.; Terkeltaub R.; Nurnberg P.; Rutsch F.;
Hum. Mutat. 25:98-98(2005)
Cited for: VARIANTS GACI1 LEU-250; TYR-252 DEL; THR-305; VAL-342 AND PHE-371; VARIANT CYS-774; Hypophosphatemia, hyperphosphaturia, and bisphosphonate treatment are associated with survival beyond infancy in generalized arterial calcification of infancy.
Rutsch F.; Boeyer P.; Nitschke Y.; Ruf N.; Lorenz-Depierieux B.; Wittkampf T.; Weissen-Plenz G.; Fischer R.J.; Mughal Z.; Gregory J.W.; Davies J.H.; Loirat C.; Strom T.M.; Schnabel D.; Nuernberg P.; Terkeltaub R.;
Circ. Cardiovasc. Genet. 1:133-140(2008)
Cited for: VARIANTS GACI1 ARG-126; TYR-216; GLU-242; LEU-250; ASN-276; THR-305; VAL-342; LYS-349; PHE-371; GLN-456; CYS-471; TRP-481; PRO-500; ARG-504; CYS-513; CYS-570; PHE-579; CYS-659; ARG-726; ARG-777; SER-792; HIS-804 AND TRP-888; VARIANTS VAL-611; LYS-668; CYS-774 AND HIS-821; Effects of Different Variants in the ENPP1 Gene on the Functional Properties of Ectonucleotide Pyrophosphatase/Phosphodiesterase Family Member 1.
Stella J.; Buers I.; van de Wetering K.; Hoehne W.; Rutsch F.; Nitschke Y.;
Hum. Mutat. 37:1190-1201(2016)
Cited for: VARIANTS GACI1 ARG-195; SER-195 AND CYS-301; CHARACTERIZATION OF VARIANTS GLN-173; LYS-668; CYS-774 AND HIS-821; CHARACTERIZATION OF VARIANTS GACI1 ARG-195; SER-195; CYS-301; THR-305; CYS-471; ARG-504; CYS-513; HIS-538; ARG-586; CYS-659; ARG-777 AND TRP-888; FUNCTION; SUBCELLULAR LOCATION;

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.