Variant position: 45 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 92 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 LQNRSRIQVWLYEQVNMRIE GCIIGFDEYMNLVLDDAEEIH
Mouse LQNRSRIQVWLYEQVNMRIE GCIIGFDEYMNLVLDDAEEIH
Pig LQNRSRIQVWLYEQVNMRIE GCIIGFDEYMNLVLDDAEEIH
Bovine LQNRSRIQVWLYEQVNMRIE GCIIGFDEYMNLVLDDAEEIH
Chicken LQNRSRIQVWLYEQVNMRIE GCIIGFDEYMNLVLDDAEEIH
Zebrafish LQNRSRISVWLYEQVNMRIE GCIIGFDEYMNLVLDDAEEVH
Caenorhabditis elegans LQNRTRVQIWLYEDVTHRLE GYIIGFDEFMNVVFDEAEEVN
Drosophila LQNRSRVQVWLYENISLRIE GHIVGFDEYMNLVLDDAEEVY
Baker's yeast LQQQTPVTIWLFEQIGIRIK GKIVGFDEFMNVVIDEAVEIP
Fission yeast LQQHTPVSIWLFEQTDIRLQ GQIRGFDEFMNIVLDDAVQVD
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 – 92 Small nuclear ribonucleoprotein E
39 – 50
Mutations in SNRPE, which encodes a core protein of the spliceosome, cause autosomal-dominant hypotrichosis simplex.
Pasternack S.M.; Refke M.; Paknia E.; Hennies H.C.; Franz T.; Schaefer N.; Fryer A.; van Steensel M.; Sweeney E.; Just M.; Grimm C.; Kruse R.; Ferrandiz C.; Noethen M.M.; Fischer U.; Betz R.C.;
Am. J. Hum. Genet. 92:81-87(2013)
Cited for: FUNCTION; SUBUNIT; SUBCELLULAR LOCATION; TISSUE SPECIFICITY; VARIANT HYPT11 SER-45; CHARACTERIZATION OF VARIANT HYPT11 SER-45;
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.