Variant position: 223 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 677 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 VSMTALRLLQRMKRDWMHTG RRPSGLCGAALLVAARMHDFR
Mouse VSMTALRLLQRMKRDWMHTG RRPSGLCGAALLVAARMHDFR
Baker's yeast VVKDAVKLAQRMSKDWMFEG RRPAGIAGACILLACRMNNLR
Fission yeast VANDAIRLVARMNRDWMQIG RRPAGICGACLLIAARMNNFR
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 – 677 Transcription factor IIIB 90 kDa subunit
185 – 269 2
1 – 238 Missing. In isoform 9.
159 – 242 NVYVLGKTFLLLARELCINAPAIDPCLYIPRFAHLLEFGEKNHEVSMTALRLLQRMKRDWMHTGRRPSGLCGAALLVAARMHDF -> DSLRPASFPTWGCDLGVVTRVVTGVYPRCASRISVAGLCCLPSQEVLVCRMRGLHDMGVTVRDLWECGSPWQEGHLPMLGTVGC. In isoform 4.
209 – 677 Missing. In isoform 6.
BRF1 mutations alter RNA polymerase III-dependent transcription and cause neurodevelopmental anomalies.
Borck G.; Hog F.; Dentici M.L.; Tan P.L.; Sowada N.; Medeira A.; Gueneau L.; Thiele H.; Kousi M.; Lepri F.; Wenzeck L.; Blumenthal I.; Radicioni A.; Schwarzenberg T.L.; Mandriani B.; Fischetto R.; Morris-Rosendahl D.J.; Altmuller J.; Reymond A.; Nurnberg P.; Merla G.; Dallapiccola B.; Katsanis N.; Cramer P.; Kubisch C.;
Genome Res. 25:155-166(2015)
Cited for: INVOLVEMENT IN CFDS; VARIANTS CFDS TRP-223; LEU-226; MET-259 AND HIS-292;
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.