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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P06401: Variant p.Ala120Val

Progesterone receptor
Gene: PGR
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Variant information Variant position: help 120
Type of variant: help LB/B
Residue change: help From Alanine (A) to Valine (V) at position 120 (A120V, p.Ala120Val).
Physico-chemical properties: help Change from small size and hydrophobic (A) to medium size and hydrophobic (V)
BLOSUM score: help 0
Other resources: help


Sequence information Variant position: help 120
Protein sequence length: help 933
Location on the sequence: help SSSPPEKDSGLLDSVLDTLL A PSGPGQSQPSPPACEVTSSW
Residue conservation: help 
Human                         SSSP--PEKDSGLLDSVLDTLLAPSGPGQSQPSPPACEVTSSW

Gorilla                       SSSP--PEKDSGLLDSVLETLLAPSGPGQSQPSPPACEVTS

                              SPGP--PRQDRGPLHGAPSTALRPAGPGQGRSSP-AWEPRS

Chimpanzee                    SSSP--PEKDSGLLDSVLDTLLAPSGPGQSQPSPPACEVTS

Mouse                         NSRA--PEKDSRLLDSVLDSLLTPSGTEQSHASPPACEAIT

Rat                           NPRA--PEKDSRLLDSVLDTLLAPSGPEQSQTSPPACEAIT

Rabbit                        SSRP--PEKDSGLLDSVLDTLLAPSGPGQSHASPATCEAIS

Chicken                       SYRPGGGSLSKDCLDSVLDTFLAPA----AHAAP-------
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 933 Progesterone receptor
Region 1 – 566 Modulating, Pro-Rich
Region 1 – 164 AF3; mediates transcriptional activation (in isoform B)
Region 1 – 157 Disordered
Modified residue 102 – 102 Phosphoserine
Modified residue 130 – 130 Phosphoserine
Alternative sequence 1 – 594 Missing. In isoform 3.
Alternative sequence 1 – 164 Missing. In isoform A.
Alternative sequence 17 – 635 Missing. In isoform 4.
Mutagenesis 115 – 115 L -> A. Reduces transcriptional activation; when associated with A-118 and A-119.
Mutagenesis 118 – 118 L -> A. Reduces transcriptional activation; when associated with A-115 and A-119.
Mutagenesis 119 – 119 L -> A. Reduces transcriptional activation; when associated with A-115 and A-118.
Mutagenesis 140 – 140 W -> AFR. Reduces transcriptional activation.



Literature citations
Submission
NIEHS SNPs program;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS THR-50; VAL-120; LEU-186; ARG-301; THR-344; SER-444; LEU-529; PRO-536; VAL-651 AND LEU-865;
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.