Sequence information
Variant position: 119 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:
VTISSIEKKLSAFRPAPRVI
R CMTNTPVVVREGATVYATGT
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 VTI----SSIEKKLSAFRPAPR--VIR CMTNTPVVVREGATVYATGT
Mouse VTI----NSIEKKLTAFQPAPK--VIR CMTNTPVVVREGVT
Bovine VTI----SSIEKKLTAFQPAPK--VIR CMTNTPVVVREGAT
Slime mold ASIEDIRSHLEKDVPIVRAMPNTAIQH CQSMTCLAIRSSHQ
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
Beta strand
116 – 121
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.