UniProtKB/Swiss-Prot Q9H221: Variant p.Asp19His

ATP-binding cassette sub-family G member 8
Gene: ABCG8
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Variant information Variant position:

19 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 Aspartate (D) to Histidine (H) at position 19 (D19H, p.Asp19His). 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 acidic (D) to medium size and polar (H) 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:

Associated significantly with GBD4. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs11887534 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

MAGKAAEERGLPKGATPQ D TSGLQDRLFSSESDNSLYFT 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                         MAGKAAEERGLPKGATPQDTS-GLQDRL--FSSESDNSLYFT

Mouse                         MAEKTKEETQLWNGTVLQDASQGLQDSL--FSSESDNSL

Rat                           MAEKTKEETQLWNGTVLQDAS-SLQDSV--FSSESDNSL

Slime mold                    MELETIEYNKSFNICENGDSK-GVQLTFKNISYKVENKN

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 – 673	ATP-binding cassette sub-family G member 8
Topological domain	1 – 416	Cytoplasmic
Region	1 – 25	Disordered

Literature citations
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 [GENOMIC DNA / MRNA] (ISOFORMS 1 AND 2); FUNCTION; TISSUE SPECIFICITY; VARIANTS STSL1 HIS-184; THR-231; LYS-238; GLN-263; HIS-405; PRO-501; SER-543; PHE-570 DEL; PRO-572; ARG-574; GLU-574 AND ARG-596; VARIANTS HIS-19; CYS-54; VAL-259; LYS-400; ARG-575 AND ALA-632; 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: VARIANTS HIS-19; CYS-54; LYS-400; ALA-632 AND PHE-641; A genome-wide association scan identifies the hepatic cholesterol transporter ABCG8 as a susceptibility factor for human gallstone disease.
Buch S.; Schafmayer C.; Voelzke H.; Becker C.; Franke A.; von Eller-Eberstein H.; Kluck C.; Baessmann I.; Brosch M.; Lammert F.; Miquel J.F.; Nervi F.; Wittig M.; Rosskopf D.; Timm B.; Hoell C.; Seeger M.; ElSharawy A.; Lu T.; Egberts J.; Faendrich F.; Foelsch U.R.; Krawczak M.; Schreiber S.; Nuernberg P.; Tepel J.; Hampe J.;
Nat. Genet. 39:995-999(2007)
Cited for: VARIANT HIS-19; INVOLVEMENT IN GBD4;

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.