Variant position: 284 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 563 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 QGRGRAGIEASLDVQYLMSA GANISTW-----VYSSPGRHEGQEPF
Chimpanzee QGRGRAGIEASLDVQYLMSA GANISTW-----VYSSPGRHE
Mouse QGRGRAGIEASLDVEYLMSA GANISTW-----VYSSPGRHE
Rat QGRGRAGIEASLDVEYLMSA GANISTW-----VYSSPGRHE
Bovine QGRGRAGIEASLDVEYLMSA GANISTW-----VYSSPGRHE
Zebrafish QGGGKAGIEASLDVEYIMSS GANISTW-----VFTNPGRHE
Slime mold NQNLNPGIETALDIQYIMAM APDVPTW-----IVSTGGLHE
Baker's yeast DERGET-------------- -LSHRLW-----LYAAPKRP-
Fission yeast QEFGTDDYTPVHHVEEQLEP ADYFALLTRADALFINSIREG
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.
Heterogeneity of late-infantile neuronal ceroid lipofuscinosis.
Zhong N.; Moroziewicz D.N.; Ju W.; Jurkiewicz A.; Johnston L.; Wisniewski K.E.; Brown W.T.;
Genet. Med. 2:312-318(2000)
Cited for: VARIANTS CLN2 GLN-127; VAL-284; ASN-428 AND ARG-473;
Identification of novel CLN2 mutations shows Canadian specific NCL2 alleles.
Ju W.; Zhong R.; Moore S.; Moroziewicz D.; Currie J.R.; Parfrey P.; Brown W.T.; Zhong N.;
J. Med. Genet. 39:822-825(2002)
Cited for: VARIANTS CLN2 MET-277; PRO-278; VAL-284 AND CYS-481;
Functional consequences and rescue potential of pathogenic missense mutations in tripeptidyl peptidase I.
Walus M.; Kida E.; Golabek A.A.;
Hum. Mutat. 31:710-721(2010)
Cited for: VARIANT CLN2 SER-544; CHARACTERIZATION OF VARIANTS CLN2 ARG-77; GLN-127; LEU-202; CYS-206; MET-277; VAL-284; SER-286; ASN-287; LYS-343; ARG-365; HIS-422; HIS-447; LEU-475 AND SER-544;
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.