Sequence information
Variant position: 99 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 226 The length of the canonical sequence.
Location on the sequence:
VQLEQLESAFGRNQYPDIWA
R ESLARDTGLSEARIQVWFQN
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 VQLEQLESAFGRNQYPDIWAR ESLARDTGLSEARIQVWFQN
Gorilla VQLEQLESAFGRNQYPDIWAR ESLARDTGLSEARIQVWFQN
Mouse AQLEQLESAFGRNQYPDIWAR EGLAQDTGLSEARIQVWFQN
Pig AQLEQLESAFGRNQYPDIWAR EGLARDTGLSEARIQVWFQN
Bovine AQLEQLESAFGRNQYPDIWAR ESLAQDTGLSEARIQVWFQN
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.
Type Positions Description
Chain
1 – 226
Homeobox protein prophet of Pit-1
DNA binding
69 – 128
Homeobox
Literature citations
Familial combined pituitary hormone deficiency due to a novel mutation R99Q in the hot spot region of Prophet of Pit-1 presenting as constitutional growth delay.
Vieira T.C.; Dias da Silva M.R.; Cerutti J.M.; Brunner E.; Borges M.; Arnaldi L.T.; Kopp P.; Abucham J.;
J. Clin. Endocrinol. Metab. 88:38-44(2003)
Cited for: VARIANT CPHD2 GLN-99;
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.