Variant position: 1299 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1720 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 KSLKKQLTRVCLGEVLQKID VQE--SFCMEEKQNKFQVYQLRF
Mouse KSLKKRLTRVCLGEVLQKVD IQE--SFCMGEKRNKFQVYEL
Rat KSLKKQLTRVCLGEVLQKVD IQE--SFCMGEKQNKFRVYEL
Drosophila EKLRINLNSVTLANLLEYVH VST--GLTLD--PERSYEYDM
Slime mold EKMAKYLEILKLSDIIKDIT VQE--YF-----QDTNRNYDI
Baker's yeast DTFCKSISKVLLSEVIDKVI VTETTGTSNTAGGNAARSYVI
Fission yeast SAFCKEVNKLVLSEVVRQVR VTE--KISGQGSDEQSKTYAI
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 – 1720 DNA-directed RNA polymerase I subunit RPA1
Acrofacial dysostosis, Cincinnati type, a mandibulofacial dysostosis syndrome with limb anomalies, is caused by POLR1A dysfunction.
Weaver K.N.; Watt K.E.; Hufnagel R.B.; Navajas Acedo J.; Linscott L.L.; Sund K.L.; Bender P.L.; Koenig R.; Lourenco C.M.; Hehr U.; Hopkin R.J.; Lohmann D.R.; Trainor P.A.; Wieczorek D.; Saal H.M.;
Am. J. Hum. Genet. 96:765-774(2015)
Cited for: INVOLVEMENT IN AFDCIN; VARIANTS AFDCIN GLN-593 AND PHE-1299;
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.