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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P22413: Variant p.Arg774Cys

Ectonucleotide pyrophosphatase/phosphodiesterase family member 1
Gene: ENPP1
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Variant information Variant position: help 774
Type of variant: help LB/B
Residue change: help From Arginine (R) to Cysteine (C) at position 774 (R774C, p.Arg774Cys).
Physico-chemical properties: help Change from large size and basic (R) to medium size and polar (C)
BLOSUM score: help -3
Variant description: help Decreased nucleotide phosphodiesterase activity; no effect on localization to plasma membrane.
Other resources: help


Sequence information Variant position: help 774
Protein sequence length: help 925
Location on the sequence: help SEALLTTNIVPMYQSFQVIW R YFHDTLLRKYAEERNGVNVV
Residue conservation: help 
Human                         SEALLTTNIVPMYQSFQVIWRYFHDTLLRKYAEERNGVNVV

Mouse                         SEALLTSNIVPMYQSFQVIWHYLHDTLLQRYAHERNGINVV

Rat                           SEALLTSNIVPMYQSFQVIWQYLHDTVLRRYAQERNGVNVV

Caenorhabditis elegans        ERIDVPNNFL-----LKVLDPLQAKSM--EYLNKFGKMYVI
Sequence annotation in neighborhood: help
TypePositionsDescription
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.