Variant position: 32 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 346 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 SRVVLGEFGVRNVHTTDFPG NYS--GYDDAWDQDRFEKNFRVD
Mouse TRVVLGEFGVRNVHTTDFPG NYA--GYDDAWDQNRFEKNFR
Bovine TRVVLGEFGVRNVHTTDFPG NYS--GYDDAWDQDRFEKNFR
Slime mold TKVTLTNSGVENARGTYYSG AYTSVGYDNSFNLNRFKENFK
Baker's yeast --VGIEYNRVTNTTSTDFPG FSK--DAENEWNVEKFKKDFE
Fission yeast TEISVLSDRVTDVGSVDFPG YYF--DEDNIWDLDKFKKNLK
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 – 346 DNA-directed RNA polymerases I and III subunit RPAC1
32 – 35
Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III.
Thiffault I.; Wolf N.I.; Forget D.; Guerrero K.; Tran L.T.; Choquet K.; Lavallee-Adam M.; Poitras C.; Brais B.; Yoon G.; Sztriha L.; Webster R.I.; Timmann D.; van de Warrenburg B.P.; Seeger J.; Zimmermann A.; Mate A.; Goizet C.; Fung E.; van der Knaap M.S.; Fribourg S.; Vanderver A.; Simons C.; Taft R.J.; Yates J.R. III; Coulombe B.; Bernard G.;
Nat. Commun. 6:7623-7632(2015)
Cited for: SUBCELLULAR LOCATION; SUBUNIT; FUNCTION; INVOLVEMENT IN HLD11; VARIANTS HLD11 ILE-26; ILE-32; VAL-65; SER-74; ALA-94; HIS-109; ASP-132; ARG-146; GLN-191; THR-262; LYS-295 DEL AND LYS-324; CHARACTERIZATION OF VARIANTS HLD11 ILE-32 AND SER-74; CHARACTERIZATION OF VARIANT TCS3 GLN-279;
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.