UniProtKB/SwissProt variant VAR

Homeobox protein prophet of Pit-1
Gene: PROP1
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Variant information Variant position:

120
Type of variant:

LP/P [Disclaimer]
Residue change:

From Arginine (R) to Cysteine (C) at position 120 (R120C, p.Arg120Cys).
Physico-chemical properties:

Change from large size and basic (R) to medium size and polar (C)
BLOSUM score:

-3
Variant description:

In CPHD2; familial.
Other resources:

Variant rs121917839 [ dbSNP | Ensembl ]

Sequence information Variant position:

120
Protein sequence length:

226
Location on the sequence:

ESLARDTGLSEARIQVWFQN R RAKQRKQERSLLQPLAHLSP
Residue conservation:

Human                         ESLARDTGLSEARIQVWFQNRRAKQRKQERSLLQPLAHLSP

Gorilla                       ESLARDTGLSEARIQVWFQNRRAKQRKQECSLLQPLAHLSP

                              EGLARDTGLSEARIQVWFQNRRAKQRKQERSLLQPLAHLSP

Mouse                         EGLAQDTGLSEARIQVWFQNRRAKQRKQERSLLQPIAHLST

Pig                           EGLARDTGLSEARIQVWFQNRRAKQRKQERSLLQPLAHLSP

Bovine                        ESLAQDTGLSEARIQVWFQNRRAKQRKQERSLLQPLAHLSP

Sequence annotation in neighborhood:

Type	Positions	Description
Chain	1 – 226	Homeobox protein prophet of Pit-1
DNA binding	69 – 128	Homeobox

Literature citations
Mutations in PROP1 cause familial combined pituitary hormone deficiency.
Wu W.; Cogan J.D.; Pfaeffle R.W.; Dasen J.S.; Frisch H.; O'Connell S.M.; Flynn S.E.; Brown M.R.; Mullis P.E.; Parks J.S.; Phillips J.A. III; Rosenfeld M.G.;
Nat. Genet. 18:147-149(1998)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANT SER-20; VARIANTS CPHD2 ILE-117 AND CYS-120; Phenotypic variability in familial combined pituitary hormone deficiency caused by a PROP1 gene mutation resulting in the substitution of Arg-->Cys at codon 120 (R120C).
Fluck C.; Deladoey J.; Rutishauser K.; Eble A.; Marti U.; Wu W.; Mullis P.E.;
J. Clin. Endocrinol. Metab. 83:3727-3734(1998)
Cited for: VARIANT CPHD2 CYS-120;

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.

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O75360: Variant p.Arg120Cys