Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P11511: Variant p.Arg375Cys

Aromatase
Gene: CYP19A1
Feedback?
Variant information Variant position: help 375
Type of variant: help LP/P [Disclaimer]
Residue change: help From Arginine (R) to Cysteine (C) at position 375 (R375C, p.Arg375Cys).
Physico-chemical properties: help Change from large size and basic (R) to medium size and polar (C)
BLOSUM score: help -3
Variant description: help In AROD.
Other resources: help


Sequence information Variant position: help 375
Protein sequence length: help 503
Location on the sequence: help VMENFIYESMRYQPVVDLVM R KALEDDVIDGYPVKKGTNII
Residue conservation: help 
Human                         VMENFIYESMRYQPVVDLVMRKALEDDVIDGYPVKKGTNII

                              VVENFIYESMRYQPVVNLVMRKALQDDIIDGYLVKKGTNII

Mouse                         VVENFINESMRYQPVVDLVMRRALEDDVIDGYPVKKGTNII

Rat                           VVENFINESLRYQPVVDLVMRRALEDDVIDGYPVKKGTNII

Pig                           VVENFIYESMRYQPVVDLVMRKALEDDVIDGYPVKKGTNII

Bovine                        VVENFINESMRYQPVVDLVMRKALEDDVIDGYPVKKGTNII

Rabbit                        VVENFIYESMRYQPVVDLVMRKALEDDVIDGYPVKKGTNII

Goat                          VVENFINESMRYQPVVDLVMRKALEDDVIDGYPVKKGTNII

Sheep                         VVENFINESMRYQPVVDLVMRKALEDDVIDGYPVKKGTNII

Horse                         VMENFINESMRYQPVVDIVMRKALEDDVIDGYPVKKGTNII

Chicken                       IVENFIYESMRYQPVVDLIMRKALQDDVIDGYPVKKGTNII
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 503 Aromatase
Binding site 374 – 374
Alternative sequence 219 – 503 Missing. In isoform 2.
Beta strand 373 – 376



Literature citations
Aromatase deficiency in male and female siblings caused by a novel mutation and the physiological role of estrogens.
Morishima A.; Grumbach M.M.; Simpson E.R.; Fisher C.; Qin K.;
J. Clin. Endocrinol. Metab. 80:3689-3698(1995)
Cited for: VARIANT AROD CYS-375;
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.