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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P04278: Variant p.Asp356Asn

Sex hormone-binding globulin
Gene: SHBG
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Variant information Variant position: help 356
Type of variant: help LB/B
Residue change: help From Aspartate (D) to Asparagine (N) at position 356 (D356N, p.Asp356Asn).
Physico-chemical properties: help Change from medium size and acidic (D) to medium size and polar (N)
BLOSUM score: help 1
Variant description: help Generates a N-glycosylation site.
Other resources: help


Sequence information Variant position: help 356
Protein sequence length: help 402
Location on the sequence: help LLNLWAKPQGRLFLGALPGE D SSTSFCLNGLWAQGQRLDVD
Residue conservation: help 
Human                         LLNLWAKPQGRLFLGALPGEDSSTSFCLNGLWAQGQRLDVD

Mouse                         LWRLWSHPQGHLSLGALPGESSSASFCLSDFWVQGQRLDID

Rat                           LWRLWSHPQGHLSLGALPGEDSSASFCLSDLWVQGQRLDID

Rabbit                        LLNLWAQPQGRLFLGALPGEDSSASFCLDGLWAQGQKLDMD
Sequence annotation in neighborhood: help
TypePositionsDescription
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.