UniProtKB/Swiss-Prot P32322: Variant p.Ala189Val

Pyrroline-5-carboxylate reductase 1, mitochondrial
Gene: PYCR1
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Variant information Variant position:

189 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

LB/B 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:

From Alanine (A) to Valine (V) at position 189 (A189V, p.Ala189Val). 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:

Change from small size and hydrophobic (A) to medium size and hydrophobic (V) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

0 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

Sequence information Variant position:

189 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

319 The length of the canonical sequence.
Location on the sequence:

AVTGLSGSGPAYAFTALDAL A DGGVKMGLPRRLAVRLGAQA 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                         AVTGLSGSGPAYAFTALDALADGGVKMGLPRRLAVRLGAQA

Mouse                         AVTGLSGSGPAYAFTALDALADGGVKMGLPRRLAVRLGAQA

Bovine                        AVTGLSGSGPAYAFTALDALADGGVKMGLPRRLAVRLGAQA

Slime mold                    PATALCACGIAFFCRAIRAAAQGGCEIGFHAEDAIRIAAQT

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	2 – 319	Pyrroline-5-carboxylate reductase 1, mitochondrial
Helix	177 – 194

Literature citations
Mutations in PYCR1 cause cutis laxa with progeroid features.
Reversade B.; Escande-Beillard N.; Dimopoulou A.; Fischer B.; Chng S.C.; Li Y.; Shboul M.; Tham P.-Y.; Kayserili H.; Al-Gazali L.; Shahwan M.; Brancati F.; Lee H.; O'Connor B.D.; Schmidt-von Kegler M.; Merriman B.; Nelson S.F.; Masri A.; Alkazaleh F.; Guerra D.; Ferrari P.; Nanda A.; Rajab A.; Markie D.; Gray M.; Nelson J.; Grix A.; Sommer A.; Savarirayan R.; Janecke A.R.; Steichen E.; Sillence D.; Hausser I.; Budde B.; Nuernberg G.; Nuernberg P.; Seemann P.; Kunkel D.; Zambruno G.; Dallapiccola B.; Schuelke M.; Robertson S.; Hamamy H.; Wollnik B.; Van Maldergem L.; Mundlos S.; Kornak U.;
Nat. Genet. 41:1016-1021(2009)
Cited for: FUNCTION; SUBCELLULAR LOCATION; VARIANTS ARCL2B GLY-119; HIS-119; THR-179; TRP-206 AND ARG-206; VARIANTS ARCL3B HIS-251 AND THR-257; VARIANT VAL-189;

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.