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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9NX62: Variant p.Thr183Pro

Golgi-resident adenosine 3',5'-bisphosphate 3'-phosphatase
Gene: BPNT2
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Variant information Variant position: help 183 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance
Residue change: help From Threonine (T) to Proline (P) at position 183 (T183P, p.Thr183Pro). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties: help Change from medium size and polar (T) to medium size and hydrophobic (P) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -1 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page
Variant description: help In CDP-GPAPP. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 183 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 359 The length of the canonical sequence.
Location on the sequence: help EVPAESVTVWIDPLDATQEY T EDLRKYVTTMVCVAVNGKPM 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         EVP--AESVTVWIDPLDATQEYTEDLRKYVTTMVCVAVNGKPM

Mouse                         EVP--AESVTVWIDPLDATQEYTEDLRKYVTTMVCVAVNGK

Rat                           EVP--AESVTVWIDPLDATQEYTEDLRKYVTTMVCVAVNGK

Pig                           EVP--AESVTVWIDPLDATQEYTEDLRKYVTTMVCVAVNGK

Bovine                        EVP--AESVTVWIDPLDATQEYTEDLRKYVTTMVCVAVNGK

Xenopus laevis                PVS--SESITIWIDPLDATHEYAENLVKYVTTMVCVAVNGK

Xenopus tropicalis            HVA--SESITMWIDPLDATQEYTENLVNYVTTMVCVAVNGK

Zebrafish                     EIP--AEKITVWIDPLDATQEYTENLLKYVTTMVCVAVDGE

Drosophila                    DVTVNAQDVTVWVDPLDATKEFTEELYEYVTTMVCVAVAGR
Sequence annotation in neighborhood: help 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.
TypePositionsDescription
Chain 1 – 359 Golgi-resident adenosine 3',5'-bisphosphate 3'-phosphatase
Topological domain 34 – 359 Lumenal
Active site 179 – 179 Proton acceptor
Binding site 174 – 174
Binding site 174 – 174
Binding site 176 – 176
Binding site 177 – 177



Literature citations
Chondrodysplasia and abnormal joint development associated with mutations in IMPAD1, encoding the Golgi-resident nucleotide phosphatase, gPAPP.
Vissers L.E.; Lausch E.; Unger S.; Campos-Xavier A.B.; Gilissen C.; Rossi A.; Del Rosario M.; Venselaar H.; Knoll U.; Nampoothiri S.; Nair M.; Spranger J.; Brunner H.G.; Bonafe L.; Veltman J.A.; Zabel B.; Superti-Furga A.;
Am. J. Hum. Genet. 88:608-615(2011)
Cited for: VARIANTS CDP-GPAPP ASN-177 AND PRO-183;
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.