Variant position: 2013 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 2624 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 GDLVLQSEISSEQGDVGVCI IPHVHSKDKSHIPSSLDNVNH
Mouse GDIVLQSEIIPGQGDVGVCV FPDVHSEDKSHAPFSPDNVNQ
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 – 2624 Transcription factor TFIIIB component B'' homolog
1373 – 2624 Missing. In isoform 4.
1389 – 2624 Missing. In isoform 3 and isoform 5.
2008 – 2008 Missing. In isoform 8.
The transcription factor-like nuclear regulator (TFNR) contains a novel 55-amino-acid motif repeated nine times and maps closely to SMN1.
Kelter A.R.; Herchenbach J.; Wirth B.;
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2); NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-2187 (ISOFORM 1); NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 2189-2624 (ISOFORM 2); SUBCELLULAR LOCATION; TISSUE SPECIFICITY; VARIANTS GLU-38; MET-1347 AND LEU-2013;
The full-ORF clone resource of the German cDNA consortium.
Bechtel S.; Rosenfelder H.; Duda A.; Schmidt C.P.; Ernst U.; Wellenreuther R.; Mehrle A.; Schuster C.; Bahr A.; Bloecker H.; Heubner D.; Hoerlein A.; Michel G.; Wedler H.; Koehrer K.; Ottenwaelder B.; Poustka A.; Wiemann S.; Schupp I.;
BMC Genomics 8:399-399(2007)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 8); NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1947-2624 (ISOFORM 7); VARIANT LEU-2013;
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.