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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q96J66: Variant p.His1344Arg

ATP-binding cassette sub-family C member 11
Gene: ABCC11
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Variant information Variant position: help 1344
Type of variant: help LB/B
Residue change: help From Histidine (H) to Arginine (R) at position 1344 (H1344R, p.His1344Arg).
Physico-chemical properties: help Change from medium size and polar (H) to large size and basic (R)
BLOSUM score: help 0
Polymorphism: help Variations in ABCC11 gene may affect apocrine gland secretion, which determines earwax type, axillary osmidrosis, and colostrum secretion [MIM:117800] (PubMed:16444273). The wet, cerumen-containing earwax type is a dominant trait, while the dry type, characterized by the lack of oily components, is recessive. The dry type is frequently observed (80-95%) among East Asians, but is uncommon (0-3%) in populations of European and African origins. Intermediate frequencies (30-50%) are seen in populations of Southern Asia, the Pacific Islands, Central Asia and Asia Minor, as well as among the Native North Americans and Inuit. The variant p.Gly180Arg is associated with dry earwax phenotype and lack of axillary odor (PubMed:16444273, PubMed:19383836, PubMed:19710689). It has been suggested that the selective advantage of variant p.Gly180Arg might be related to an adaptation to a cold climate (PubMed:20937735).
Variant description: help No effect on glycosylation; no effect on transport activity; no effect on plasma membrane localization.
Other resources: help


Sequence information Variant position: help 1344
Protein sequence length: help 1382
Location on the sequence: help FQGCTVLVIAHRVTTVLNCD H ILVMGNGKVVEFDRPEVLRK
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 1382 ATP-binding cassette sub-family C member 11
Topological domain 1096 – 1382 Cytoplasmic
Domain 1141 – 1375 ABC transporter 2



Literature citations
MRP8, a new member of ABC transporter superfamily, identified by EST database mining and gene prediction program, is highly expressed in breast cancer.
Bera T.K.; Lee S.; Salvatore G.; Lee B.K.; Pastan I.H.;
Mol. Med. 7:509-516(2001)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANTS GLU-317 AND ARG-1344; Earwax, osmidrosis, and breast cancer: why does one SNP (538G>A) in the human ABC transporter ABCC11 gene determine earwax type?
Toyoda Y.; Sakurai A.; Mitani Y.; Nakashima M.; Yoshiura K.; Nakagawa H.; Sakai Y.; Ota I.; Lezhava A.; Hayashizaki Y.; Niikawa N.; Ishikawa T.;
FASEB J. 23:2001-2013(2009)
Cited for: VARIANT ARG-180; CHARACTERIZATION OF VARIANTS HIS-19; ARG-180; GLU-317; MET-546; TRP-630; ILE-648; ILE-687; ARG-735; VAL-970; 1313-ASP--ARG-1321 DEL AND ARG-1344; FUNCTION; SUBCELLULAR LOCATION; TOPOLOGY; TISSUE SPECIFICITY; GLYCOSYLATION AT ASN-838 AND ASN-844; POLYMORPHISM; MUTAGENESIS OF GLY-180; ASN-838 AND ASN-844; Functional characterization of common protein variants in the efflux transporter ABCC11 and identification of T546M as functionally damaging variant.
Arlanov R.; Lang T.; Jedlitschky G.; Schaeffeler E.; Ishikawa T.; Schwab M.; Nies A.T.;
Pharmacogenomics J. 16:193-201(2016)
Cited for: CHARACTERIZATION OF VARIANTS HIS-19; ARG-180; GLU-317; MET-546; ILE-648 AND ARG-1344; FUNCTION; SUBCELLULAR LOCATION; CATALYTIC ACTIVITY;
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.