Sequence information
Variant position: 356 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 402 The length of the canonical sequence.
Location on the sequence:
LLNLWAKPQGRLFLGALPGE
D SSTSFCLNGLWAQGQRLDVD
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 LLNLWAKPQGRLFLGALPGED SSTSFCLNGLWAQGQRLDVD
Mouse LWRLWSHPQGHLSLGALPGES SSASFCLSDFWVQGQRLDID
Rat LWRLWSHPQGHLSLGALPGED SSASFCLSDLWVQGQRLDID
Rabbit LLNLWAQPQGRLFLGALPGED SSASFCLDGLWAQGQKLDMD
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
30 – 402
Sex hormone-binding globulin
Domain
224 – 390
Laminin G-like 2
Alternative sequence
294 – 402
Missing. In isoform 2 and isoform 3.
Literature citations
Molecular analyses of a human sex hormone-binding globulin variant: evidence for an additional carbohydrate chain.
Power S.G.A.; Bocchinfuso W.P.; Pallesen M.; Warmels-Rodenhiser S.; Van Baelen H.; Hammond G.L.;
J. Clin. Endocrinol. Metab. 75:1066-1070(1992)
Cited for: VARIANT ASN-356; CHARACTERIZATION OF VARIANT ASN-356; GLYCOSYLATION;
Molecular characterization of a genetic variant of the steroid hormone-binding globulin gene in heterozygous subjects.
Hardy D.O.; Carino C.; Catterall J.F.; Larrea F.;
J. Clin. Endocrinol. Metab. 80:1253-1256(1995)
Cited for: VARIANT ASN-356;
Characterization of single-nucleotide polymorphisms in coding regions of human genes.
Cargill M.; Altshuler D.; Ireland J.; Sklar P.; Ardlie K.; Patil N.; Shaw N.; Lane C.R.; Lim E.P.; Kalyanaraman N.; Nemesh J.; Ziaugra L.; Friedland L.; Rolfe A.; Warrington J.; Lipshutz R.; Daley G.Q.; Lander E.S.;
Nat. Genet. 22:231-238(1999)
Cited for: VARIANTS HIS-25 AND ASN-356;
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.