UniProtKB/SwissProt variant VAR

Variant information

Variant position:

1102

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 Isoleucine (I) to Threonine (T) at position 1102 (I1102T, p.Ile1102Thr).

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 medium size and hydrophobic (I) to medium size and polar (T)

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 WD; yeast complementation assays show that the variant intermediately rescue iron-uptake deficiency of yeast mutant ccc2.

Any additional useful information about the variant.

Other resources:

Links to websites of interest for the variant.

Variant rs560952220 [ dbSNP | Ensembl ]

Sequence information

Variant position:

1102

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:

ELGTETLGYCTDFQAVPGCG I GCKVSNVEGILAHSERPLSA

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                         ELGTETLGYCTDFQAVPGCGIGCKVSNVEGILAHSERPLSA

Mouse                         ELGTETLGYSTDFQAVPGCGISCKVSNVEGILARSD-----

Rat                           ELGTETLGYSTDFQAVPGCGISCKVSNVESILAHRG-----

Sheep                         ELGTETLGCCMDFQAVPGCGISCKVSSVESILAQGERLQGP

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
Topological domain	995 – 1322	Cytoplasmic
Alternative sequence	234 – 1465	RPLSSANQNFNNSETLGHQGSHVVTLQLRIDGMHCKSCVLNIEENIGQLLGVQSIQVSLENKTAQVKYDPSCTSPVALQRAIEALPPGNFKVSLPDGAEGSGTDHRSSSSHSPGSPPRNQVQGTCSTTLIAIAGMTCASCVHSIEGMISQLEGVQQISVSLAEGTATVLYNPSVISPEELRAAIEDMGFEASVVSESCSTNPLGNHSAGNSMVQTTDGTPTSVQEVAPHTGRLPANHAPDILAKSPQSTRAVAPQKCFLQIKGMTCASCVSNIERNLQKEAGVLSVLVALMAGKAEIKYDPEVIQPLEIAQFIQDLGFEAAVMEDYAGSDGNIELTITGMTCASCVHNIESKLTRTNGITYASVALATSKALVKFDPEIIGPRDIIKIIEEIGFHASLAQRNPNAHHLDHKMEIKQWKKSFLCSLVFGIPVMALMIYMLIPSNEPHQSMVLDHNIIPGLSILNLIFFILCTFVQLLGGWYFYVQAYKSLRHRSANMDVLIVLATSIAYVYSLVILVVAVAEKAERSPVTFFDTPPMLFVFIALGRWLEHLAKSKTSEALAKLMSLQATEATVVTLGEDNLIIREEQVPMELVQRGDIVKVVPGGKFPVDGKVLEGNTMADESLITGEAMPVTKKPGSTVIAGSINAHGSVLIKATHVGNDTTLAQIVKLVEEAQMSKAPIQQLADRFSGYFVPFIIIMSTLTLVVWIVIGFIDFGVVQRYFPNPNKHISQTEVIIRFAFQTSITVLCIACPCSLGLATPTAVMVGTGVAAQNGILIKGGKPLEMAHKIKTVMFDKTGTITHGVPRVMRVLLLGDVATLPLRKVLAVVGTAEASSEHPLGVAVTKYCKEELGTETLGYCTDFQAVPGCGIGCKVSNVEGILAHSERPLSAPASHLNEAGSLPAEKDAVPQTFSVLIGNREWLRRNGLTISSDVSDAMTDHEMKGQTAILVAIDGVLCGMIAIADAVKQEAALAVHTLQSMGVDVVLITGDNRKTARAIATQVGINKVFAEVLPSHKVAKVQELQNKGKKVAMVGDGVNDSPALAQADMGVAIGTGTDVAIEAADVVLIRNDLLDVVASIHLSKRTVRRIRINLVLALIYNLVGIPIAAGVFMPIGIVLQPWMGSAAMAASSVSVVLSSLQLKCYKKPDLERYEAQAHGHMKPLTASQVSVHIGMDDRWRDSPRATPWDQVSYVSQVSLSSLTSDKPSRHSAAADDDGDKWSLLLNGRDEEQYI -> ETFIFC. In isoform 5.
Beta strand	1101 – 1107

Literature citations

Molecular diagnosis of Wilson disease.
Butler P.; McIntyre N.; Mistry P.K.;
Mol. Genet. Metab. 72:223-230(2001)
Cited for: VARIANTS WD TRP-778; ARG-898; GLN-1069; THR-1102 AND ARG-1266;

Identification and molecular characterization of 18 novel mutations in the ATP7B gene from Indian Wilson disease patients: genotype.
Kumar S.; Thapa B.R.; Kaur G.; Prasad R.;
Clin. Genet. 67:443-445(2005)
Cited for: VARIANTS WD HIS-992; THR-1003; THR-1102; TYR-1104 AND ARG-1256;

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;

Functional analysis of mutations in the ATP loop of the Wilson disease copper transporter, ATP7B.
Luoma L.M.; Deeb T.M.; Macintyre G.; Cox D.W.;
Hum. Mutat. 31:569-577(2010)
Cited for: VARIANTS WD MET-991; ARG-1000; PRO-1043; ARG-1101; THR-1102; THR-1148; GLY-1173; GLU-1176; THR-1228; GLY-1239; VAL-1267 AND SER-1287; CHARACTERIZATION OF VARIANTS WD MET-991; ARG-1000; PRO-1043; ARG-1101; THR-1102; THR-1148; GLY-1173; GLU-1176; THR-1228; GLY-1239; VAL-1267 AND SER-1287;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P35670: Variant p.Ile1102Thr