Variant position: 483 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 494 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 PLPHCSVILKMQPFQVRLQP RG--MGAHSPGQNQ---
Mouse PQPYAGINLPIPPFQVRLQP RN--LAPQDQGE
Rat PLPYTGINLLIPPFQVRLQP RN--LAPQDQGQ
Pig PHPHSGINLKVQPFQVRLQP RG--GRGEGPGP
Bovine PDPYCGVNLKVQPFQVRLQP RGVEAGAWESAS
Cat PRSHCGINLTMQPFQVRLQP RG--AVAPGPSQ
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 – 494 Steroid 21-hydroxylase
Molecular genetic analysis of Tunisian patients with a classic form of 21-hydroxylase deficiency: identification of four novel mutations and high prevalence of Q318X mutation.
Kharrat M.; Tardy V.; M'Rad R.; Maazoul F.; Jemaa L.B.; Refai M.; Morel Y.; Chaabouni H.;
J. Clin. Endocrinol. Metab. 89:368-374(2004)
Cited for: VARIANTS AH3 ASN-172; TRP-356 AND TRP-483;
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