Variant position: 602 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1390 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 RLPPPTILKPVTLWTGKQIF SVILRPSDDNPVRANLRTKGK
Bovine RLPPPTILKPVTLWTGKQIF SVILRPSDDNPVRANLRTKGK
Chicken RLPPPAILKPVTLWTGKQVF SSILKPSDDCPVKANLRTKGK
Slime mold DLPPPAILKPVELWTGKQIF EVLLRPSVKSHVLCNFETRSR
Baker's yeast DIPPPAIMKPYYLWTGKQVF SLLIKPNHNSPVVINLDAKNK
Fission yeast DLPPPAIIKPRCLWTGKQVF TVLMKPNRFSKVLVNLDAKTR
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 – 1390 DNA-directed RNA polymerase III subunit RPC1
Mutations in POLR3A and POLR3B are a major cause of hypomyelinating leukodystrophies with or without dental abnormalities and/or hypogonadotropic hypogonadism.
Daoud H.; Tetreault M.; Gibson W.; Guerrero K.; Cohen A.; Gburek-Augustat J.; Synofzik M.; Brais B.; Stevens C.A.; Sanchez-Carpintero R.; Goizet C.; Naidu S.; Vanderver A.; Bernard G.;
J. Med. Genet. 50:194-197(2013)
Cited for: VARIANTS HLD7 LEU-91; GLY-387; ARG-602; VAL-852; CYS-1005 AND LYS-1261;
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.