Variant position: 504 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 ILSLINEHRILSGRPPLGFL NPRLYQ---------QHGAGLFDVTRGCH--E
Chimpanzee ILSLINEHRILSGRPPLGFL NPRLYQ---------QHGAGL
Mouse ILSLINEHRILNGRPPLGFL NPRLYQ---------QHGTGL
Rat ILSLINEHRLLNGRPPLGFL NPRLYQ---------QHGAGL
Bovine LLSLINEHRILRGLPPLGFL NPRLYQ---------KHGAGL
Zebrafish ILSLINDQRFLKGLPALGFI NPRLYK---------MQGKGL
Slime mold LLSLINDQRLQKNQSPIGLF NPLLYK------IARDHPNSF
Baker's yeast -------------------- ---------------KYPEEI
Fission yeast LVCSKYDVEIMRGKANLEVR PSSINKGGIVKQILSSYPEDS
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.
Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.
Kousi M.; Lehesjoki A.E.; Mole S.E.;
Hum. Mutat. 33:42-63(2012)
Cited for: VARIANTS CLN2 THR-62; HIS-209; GLN-266; GLN-339; ARG-382; VAL-448; CYS-501; TYR-504 AND ARG-548;
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.