Variant position: 63 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 152 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 ALVTGAMAFVGGLVGGPPGL AVGGAVGGLLGAWMTSGQFKP
Mouse AMVAGAMAFVGGLVGGPPGI AVGGTVGGLLGAWMTSGQFKP
Bovine ALVTGAVAFVGGLVGGPPGL AVGGAVGGLLGAWMTSGQFKP
Xenopus tropicalis ALVAAAGAFLGGLVGGPPGI AVGGAVGGAMGAWMTSGQFKP
Zebrafish AAAAGGLAFAGGLIGGPLGI AVGGAVGGLLGCWMKSGQFKP
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 – 152 Protein C19orf12
51 – 71 Helical
1 – 75 Missing. In isoform 2.
Hereditary spastic paraplegia type 43 (SPG43) is caused by mutation in C19orf12.
Landoure G.; Zhu P.P.; Lourenco C.M.; Johnson J.O.; Toro C.; Bricceno K.V.; Rinaldi C.; Meilleur K.G.; Sangare M.; Diallo O.; Pierson T.M.; Ishiura H.; Tsuji S.; Hein N.; Fink J.K.; Stoll M.; Nicholson G.; Gonzalez M.A.; Speziani F.; Durr A.; Stevanin G.; Biesecker L.G.; Accardi J.; Landis D.M.; Gahl W.A.; Traynor B.J.; Marques W. Jr.; Zuchner S.; Blackstone C.; Fischbeck K.H.; Burnett B.G.;
Hum. Mutat. 34:1357-1360(2013)
Cited for: VARIANT SPG43 PRO-63; VARIANTS NBIA4 PRO-63 AND GLY-66 DEL; SUBCELLULAR LOCATION; CHARACTERIZATION OF VARIANTS SPG43 PRO-63; CHARACTERIZATION OF VARIANTS NBIA4 PRO-63; GLY-66 DEL AND ARG-69;
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.