Variant position: 251 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 320 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 VCSPGGATIHALHFLESGGF RSLLINAVEASCIRTRELQSM
Mouse VCSPGGATIHALHFLESGGF RSLLINAVEASCIRTRELQSM
Rat VCSPGGATIHALHFLESGGF RSLLINAVEASCIRTRELQSM
Bovine VCSPGGATIHALHFLESGGF RSLLINAVEASCIRTRELQSM
Slime mold ITTPSGATIAGLNTMEHNGL SSAIIKGIVMS----------
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
2 – 320 Pyrroline-5-carboxylate reductase 2
Mutations in PYCR2, encoding pyrroline-5-carboxylate reductase 2, cause microcephaly and hypomyelination.
Nakayama T.; Al-Maawali A.; El-Quessny M.; Rajab A.; Khalil S.; Stoler J.M.; Tan W.H.; Nasir R.; Schmitz-Abe K.; Hill R.S.; Partlow J.N.; Al-Saffar M.; Servattalab S.; LaCoursiere C.M.; Tambunan D.E.; Coulter M.E.; Elhosary P.C.; Gorski G.; Barkovich A.J.; Markianos K.; Poduri A.; Mochida G.H.;
Am. J. Hum. Genet. 96:709-719(2015)
Cited for: FUNCTION; SUBCELLULAR LOCATION; TISSUE SPECIFICITY; INVOLVEMENT IN HLD10; VARIANTS HLD10 CYS-119 AND CYS-251; CHARACTERIZATION OF VARIANTS HLD10 CYS-119 AND CYS-251;
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.