UniProtKB/Swiss-Prot Q9H222: Variant p.Gln604Glu

ATP-binding cassette sub-family G member 5
Gene: ABCG5
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Variant information Variant position:

604 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 Glutamine (Q) to Glutamate (E) at position 604 (Q604E, p.Gln604Glu). 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 polar (Q) to medium size and acidic (E) 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
Other resources:

Links to websites of interest for the variant.

Variant rs6720173 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

NFTCGSSNVSVTTNPMCAFT Q GIQFIEKTCPGATSRFTMNF 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                         NFTCGSSNVSVTTNPMCAFTQGIQFIEKT-CP---GATSRFTMNF

Mouse                         NFTCGGSNTSMLNHPMCAITQGVQFIEKT-CP---GATSRF

Rat                           NFTCGGSNTSVPNNPMCSMTQGIQFIEKT-CP---GATSRF

Slime mold                    TFVCTNNKGAV---PIPIIENGVQIAIKYYCPITNGDDFML

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 – 651	ATP-binding cassette sub-family G member 5
Topological domain	550 – 623	Extracellular
Domain	388 – 645	ABC transmembrane type-2
Glycosylation	584 – 584	N-linked (GlcNAc...) asparagine
Glycosylation	591 – 591	N-linked (GlcNAc...) asparagine

Literature citations
Accumulation of dietary cholesterol in sitosterolemia caused by mutations in adjacent ABC transporters.
Berge K.E.; Tian H.; Graf G.A.; Yu L.; Grishin N.V.; Schultz J.; Kwiterovich P.; Shan B.; Barnes R.; Hobbs H.H.;
Science 290:1771-1775(2000)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANT GLU-604; FUNCTION; TISSUE SPECIFICITY; Identification of a gene, ABCG5, important in the regulation of dietary cholesterol absorption.
Lee M.-H.; Lu K.; Hazard S.; Yu H.; Shulenin S.; Hidaka H.; Kojima H.; Allikmets R.; Sakuma N.; Pegoraro R.; Srivastava A.K.; Salen G.; Dean M.; Patel S.B.;
Nat. Genet. 27:79-83(2001)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANTS STSL2 HIS-389; HIS-419 AND PRO-419; VARIANT GLU-604; FUNCTION; TISSUE SPECIFICITY; Two genes that map to the STSL locus cause sitosterolemia: genomic structure and spectrum of mutations involving sterolin-1 and sterolin-2, encoded by ABCG5 and ABCG8, respectively.
Lu K.; Lee M.-H.; Hazard S.; Brooks-Wilson A.; Hidaka H.; Kojima H.; Ose L.; Stalenhoef A.F.H.; Mietinnen T.; Bjorkhem I.; Bruckert E.; Pandya A.; Brewer H.B. Jr.; Salen G.; Dean M.; Srivastava A.K.; Patel S.B.;
Am. J. Hum. Genet. 69:278-290(2001)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1-88 (ISOFORM 1); VARIANTS STSL2 GLN-146; HIS-389; PRO-419; HIS-419 AND SER-550; VARIANT GLU-604; Mutations in ATP-cassette binding proteins G5 (ABCG5) and G8 (ABCG8) causing sitosterolemia.
Hubacek J.A.; Berge K.E.; Cohen J.C.; Hobbs H.H.;
Hum. Mutat. 18:359-360(2001)
Cited for: VARIANT STSL2 LYS-437; VARIANTS VAL-523; TYR-600; GLU-604 AND VAL-622;

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.