Variant position: 192 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 289 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 QRALSTWKQMGEQRELQEGT YVMVAGPSFETVAECRVLQKL
Mouse QKAFTAWKQMGEQRKLQEGT YVMLAGPNFETVAESRLLKML
Rat QKAFNAWKQMGEQRELQEGT YIMSAGPTFETVAESCLLRML
Bovine QKAHSTWKQMGEQRELQEGT YVMLGGPNFETVAECRLLRNL
Drosophila QHLLSAAEELGFPTG-SSGT VLTLEGPRYSTVAENNMFRKW
Baker's yeast KLLFKKWKELKIQRPLHEGT YTFVSGPTFETRAESKMIRML
Fission yeast KLVYDAAKAHKVSRTIHEGC YAFVSGPCFETRAESRMLALM
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 – 289 Purine nucleoside phosphorylase
201 – 201 Purine nucleoside
201 – 201 E -> AQ. Severe loss of catalytic activity.
188 – 194
Two novel missense and frameshift mutations in exons 5 and 6 of the purine nucleoside phosphorylase (PNP) gene in a severe combined immunodeficiency (SCID) patient.
Pannicke U.; Tuchschmid P.; Friedrich W.; Bartram C.R.; Schwarz K.;
Hum. Genet. 98:706-709(1996)
Cited for: VARIANT PNPD CYS-192;
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