UniProtKB/Swiss-Prot P35670: Variant p.Arg778Gly

Copper-transporting ATPase 2
Gene: ATP7B
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Variant information Variant position:

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

LP/P [Disclaimer] 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 Glycine (G) at position 778 (R778G, p.Arg778Gly). 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 glycine (G) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-2 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 WD. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs137853284 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

1465 The length of the canonical sequence.
Location on the sequence:

RSPVTFFDTPPMLFVFIALG R WLEHLAKSKTSEALAKLMSL 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                         RSPVTFFDTPPMLFVFIALGRWLEHLAKSKTSEALAKLMSL

Mouse                         KSPVTFFDTPPMLFVFIALGRWLEHVAKSKTSEALAKLMSL

Rat                           KSPVTFFDTPPMLFVFIALGRWLEHVAKSKTSEALAKLMSL

Sheep                         RSPVTFFDTPPMLFVFIALGRWLEHVVKSKTSEALARLMSL

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 – 1465	Copper-transporting ATPase 2
Transmembrane	765 – 785	Helical
Alternative sequence	234 – 1465	RPLSSANQNFNNSETLGHQGSHVVTLQLRIDGMHCKSCVLNIEENIGQLLGVQSIQVSLENKTAQVKYDPSCTSPVALQRAIEALPPGNFKVSLPDGAEGSGTDHRSSSSHSPGSPPRNQVQGTCSTTLIAIAGMTCASCVHSIEGMISQLEGVQQISVSLAEGTATVLYNPSVISPEELRAAIEDMGFEASVVSESCSTNPLGNHSAGNSMVQTTDGTPTSVQEVAPHTGRLPANHAPDILAKSPQSTRAVAPQKCFLQIKGMTCASCVSNIERNLQKEAGVLSVLVALMAGKAEIKYDPEVIQPLEIAQFIQDLGFEAAVMEDYAGSDGNIELTITGMTCASCVHNIESKLTRTNGITYASVALATSKALVKFDPEIIGPRDIIKIIEEIGFHASLAQRNPNAHHLDHKMEIKQWKKSFLCSLVFGIPVMALMIYMLIPSNEPHQSMVLDHNIIPGLSILNLIFFILCTFVQLLGGWYFYVQAYKSLRHRSANMDVLIVLATSIAYVYSLVILVVAVAEKAERSPVTFFDTPPMLFVFIALGRWLEHLAKSKTSEALAKLMSLQATEATVVTLGEDNLIIREEQVPMELVQRGDIVKVVPGGKFPVDGKVLEGNTMADESLITGEAMPVTKKPGSTVIAGSINAHGSVLIKATHVGNDTTLAQIVKLVEEAQMSKAPIQQLADRFSGYFVPFIIIMSTLTLVVWIVIGFIDFGVVQRYFPNPNKHISQTEVIIRFAFQTSITVLCIACPCSLGLATPTAVMVGTGVAAQNGILIKGGKPLEMAHKIKTVMFDKTGTITHGVPRVMRVLLLGDVATLPLRKVLAVVGTAEASSEHPLGVAVTKYCKEELGTETLGYCTDFQAVPGCGIGCKVSNVEGILAHSERPLSAPASHLNEAGSLPAEKDAVPQTFSVLIGNREWLRRNGLTISSDVSDAMTDHEMKGQTAILVAIDGVLCGMIAIADAVKQEAALAVHTLQSMGVDVVLITGDNRKTARAIATQVGINKVFAEVLPSHKVAKVQELQNKGKKVAMVGDGVNDSPALAQADMGVAIGTGTDVAIEAADVVLIRNDLLDVVASIHLSKRTVRRIRINLVLALIYNLVGIPIAAGVFMPIGIVLQPWMGSAAMAASSVSVVLSSLQLKCYKKPDLERYEAQAHGHMKPLTASQVSVHIGMDDRWRDSPRATPWDQVSYVSQVSLSSLTSDKPSRHSAAADDDGDKWSLLLNGRDEEQYI -> ETFIFC. In isoform 5.
Alternative sequence	624 – 785	Missing. In isoform 2.
Helix	767 – 786

Literature citations
Molecular pathology and haplotype analysis of Wilson disease in Mediterranean populations.
Figus A.; Angius A.; Loudianos G.; Bertini C.; Dessi V.; Loi A.; Deiana M.; Lovicu M.; Olla N.; Sole G.; de Virgiliis S.; Lilliu F.; Farci A.M.G.; Nurchi A.; Giacchino R.; Barabino A.; Marazzi M.; Zancan L.; Greggio N.A.; Macellini M.; Solinas A.; Deplano A.; Barbera C.; Devoto M.; Ozsoylu S.; Kocak N.; Akar N.; Karayalcin S.; Mokini V.; Cullufi P.; Balestrieri A.; Cao A.; Pirastu M.;
Am. J. Hum. Genet. 57:1318-1324(1995)
Cited for: VARIANTS WD ALA-626; ASN-765; GLY-778; THR-857; GLN-969; LYS-1064 AND SER-1270; Delineation of the spectrum of Wilson disease mutations in the Greek population and the identification of six novel mutations.
Loudianos G.; Lovicu M.; Solinas P.; Kanavakis E.; Tzetis M.; Manolaki N.; Panagiotakaki E.; Karpathios T.; Cao A.;
Genet. Test. 4:399-402(2000)
Cited for: VARIANTS WD SER-486; GLY-778; MET-890; GLN-969; GLU-1061; GLN-1069; SER-1099 AND THR-1148; Spectrum of mutations in the Wilson disease gene (ATP7B) in the Bulgarian population.
Todorov T.; Savov A.; Jelev H.; Panteleeva E.; Konstantinova D.; Krustev Z.; Mihaylova V.; Tournev I.; Tankova L.; Tzolova N.; Kremensky I.;
Clin. Genet. 68:474-476(2005)
Cited for: VARIANTS WD GLN-616; ALA-626; TRP-778; GLY-778; VAL-874; GLN-969; THR-1003; GLN-1069; 1217-VAL-LEU-1218 DEL; SER-1270; TYR-1279; ASP-1341; SER-1352 AND PRO-1368; Frameshift and nonsense mutations in the gene for ATPase7B are associated with severe impairment of copper metabolism and with an early clinical manifestation of Wilson's disease.
Gromadzka G.; Schmidt H.H.-J.; Genschel J.; Bochow B.; Rodo M.; Tarnacka B.; Litwin T.; Chabik G.; Czlonkowska A.;
Clin. Genet. 68:524-532(2005)
Cited for: VARIANTS WD GLN-616; TYR-639; TYR-653; PRO-776; GLY-778; MET-977; ARG-988; LEU-992; GLN-1069; PRO-1095; MET-1220; LEU-1273 AND ASP-1341; Mutation analysis of the ATP7B gene and genotype/phenotype correlation in 227 patients with Wilson disease.
Vrabelova S.; Letocha O.; Borsky M.; Kozak L.;
Mol. Genet. Metab. 86:277-285(2005)
Cited for: VARIANTS WD SER-641; SER-710; ARG-737; GLY-778; GLU-918; GLN-969; MET-977; VAL-1018; SER-1033; TRP-1041; VAL-1063; LYS-1064; GLN-1069; THR-1102; ASP-1111; THR-1148; ARG-1176; SER-1186; ASN-1271; LEU-1273; PRO-1305; ASP-1341 AND CYS-1355; VARIANTS LEU-456; ARG-832 AND ALA-1140; Phenotypic and genetic characterization of a cohort of pediatric Wilson disease patients.
Abdel Ghaffar T.Y.; Elsayed S.M.; Elnaghy S.; Shadeed A.; Elsobky E.S.; Schmidt H.;
BMC Pediatr. 11:56-56(2011)
Cited for: VARIANTS WD PRO-549; HIS-642; TYR-703; PRO-744; ASN-765; GLY-778; MET-977; ASP-998; VAL-1063; GLN-1069; ARG-1207; LEU-1273; ASP-1332; ARG-1341 AND ASP-1341; Mutation analysis of ATP7B gene in Turkish Wilson disease patients: identification of five novel mutations.
Simsek Papur O.; Akman S.A.; Cakmur R.; Terzioglu O.;
Eur. J. Med. Genet. 56:175-179(2013)
Cited for: VARIANTS WD SER-710; ASN-765; GLY-778; TRP-778; ILE-788; VAL-874; TRP-919; SER-943; GLN-969; THR-1003; VAL-1003; ILE-1036; TRP-1041; GLN-1069; CYS-1151; THR-1245 AND SER-1270; VARIANTS ALA-406; LEU-456; ARG-832; LYS-952; ALA-1140; ARG-1207 AND LEU-1243;

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.