Variant position: 609 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 920 The length of the canonical sequence.
Location on the sequence:
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 EGKQKYLCASRNDCTIDKFR RKNCPSCRLRKCYEAGMTLGA
Rhesus macaque EGKQKYLCASRNDCTIDKFR RKNCPSCRLRKCYEAGMTLGA
Chimpanzee EGKQKYLCASRNDCTIDKFR RKNCPSCRLRKCYEAGMTLGA
Mouse EGKQKYLCASRNDCTIDKFR RKNCPSCRLRKCYEAGMTLGA
Rat EGKQKYLCASRNDCTIDKFR RKNCPSCRLRKCYEAGMTLGA
Pig EGKQKYLCASRNDCTIDKFR RKNCPSCRLRKCYEAGMTLGA
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.
Point mutations detected in the androgen receptor gene of three men with partial androgen insensitivity syndrome.
Saunders P.T.; Padayachi T.; Tincello D.G.; Shalet S.M.; Wu F.C.;
Clin. Endocrinol. (Oxf.) 37:214-220(1992)
Cited for: VARIANTS PAIS LYS-609 AND LEU-867;
Androgen receptor gene mutation in male breast cancer.
Lobaccaro J.-M.; Lumbroso S.; Belon C.; Galtier-Dereure F.; Bringer J.; Lesimple T.; Namer M.; Cutuli B.F.; Pujol H.; Sultan C.;
Hum. Mol. Genet. 2:1799-1802(1993)
Cited for: VARIANT PAIS/BREAST CANCER LYS-609;
Correlation of clinical, endocrine and molecular abnormalities with in vivo responses to high-dose testosterone in patients with partial androgen insensitivity syndrome.
Tincello D.G.; Saunders P.T.; Hodgins M.B.; Simpson N.B.; Edwards C.R.; Hargreaves T.B.; Wu F.C.;
Clin. Endocrinol. (Oxf.) 46:497-506(1997)
Cited for: VARIANTS PAIS LYS-609 AND GLY-773;
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.