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UniProtKB/Swiss-Prot P10275: Variant p.Ala646Asp

Androgen receptor
Gene: AR
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Variant information Variant position: help 646
Type of variant: help LB/B
Residue change: help From Alanine (A) to Aspartate (D) at position 646 (A646D, p.Ala646Asp).
Physico-chemical properties: help Change from small size and hydrophobic (A) to medium size and acidic (D)
BLOSUM score: help -2
Polymorphism: help The poly-Gln region of AR is highly polymorphic and the number of Gln varies in the population (from 17 to 26). A smaller size of the poly-Gln region may be associated with the development of prostate cancer. Long poly-Gln alleles (>23) may be associated with higher testosterone levels and severe clinical outcome in COVID-19 disease (PubMed:33647767).The poly-Gly region of AR is polymorphic and ranges from 24 to 31 Gly. A poly-Gly region shorter or equal to 23 may be associated with the development of androgenetic alopecia. -
Other resources: help


Sequence information Variant position: help 646
Protein sequence length: help 920
Location on the sequence: help TLGARKLKKLGNLKLQEEGE A SSTTSPTEETTQKLTVSHIE
Residue conservation: help 
Human                         TLGARKLKKLGNLKLQEEGEASSTTSPTEETTQKLTVSHIE

                              TLGARKLKKLGNLKLQEEGEASNVTSPTEEPTQKLTVSHIE

Rhesus macaque                TLGARKLKKLGNLKLQEEGEASSTTSPTEETAQKLTVSHIE

Chimpanzee                    TLGARKLKKLGNLKLQEEGEASSTTSPTEETTQKLTVSHIE

Mouse                         TLGARKLKKLGNLKLQEEGENSNAGSPTEDPSQKMTVSHIE

Rat                           TLGARKLKKLGNLKLQEEGENSSAGSPTEDPSQKMTVSHIE

Pig                           TLGARKLKKLGNLKLQEEGEASSATSPTEEPAQKLTVSHIE
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 920 Androgen receptor
Region 552 – 919 Interaction with LPXN
Region 572 – 662 Interaction with HIPK3
Region 592 – 919 Interaction with CCAR1
Region 625 – 919 Interaction with KAT7
Modified residue 651 – 651 Phosphoserine; by STK4/MST1
Alternative sequence 630 – 648 RKLKKLGNLKLQEEGEASS -> AVVVSERILRVFGVSEWLP. In isoform 4.
Alternative sequence 645 – 920 Missing. In isoform 3.



Literature citations
An androgen receptor gene mutation (A645D) in a boy with a normal phenotype.
Nordenskjoeld A.; Soederhaell S.;
Hum. Mutat. 11:339-339(1998)
Cited for: VARIANT ASP-646;
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.