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:
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 VQLEQLESAFGRNQYPDIWA RESLARDTGLSEARIQVWFQN
Gorilla VQLEQLESAFGRNQYPDIWA RESLARDTGLSEARIQVWFQN
Mouse AQLEQLESAFGRNQYPDIWA REGLAQDTGLSEARIQVWFQN
Pig AQLEQLESAFGRNQYPDIWA REGLARDTGLSEARIQVWFQN
Bovine AQLEQLESAFGRNQYPDIWA RESLAQDTGLSEARIQVWFQN
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
1 – 226 Homeobox protein prophet of Pit-1
69 – 128 Homeobox
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;
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