Variant position: 124 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 376 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 QPVLMTEPSLNPREIREKLA EMMFETFSVPGFYLSNHAVAA
Mouse QPVFMTEPSLNPQETREKTT EIMFEKFNVPALYLCNHAVGA
Rat QPVFMTEPSLNPRETREKTT EIMFEKFNVPALYLCNHAVGA
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 – 376 Actin-related protein T1
Mutations in ACTRT1 and its enhancer RNA elements lead to aberrant activation of Hedgehog signaling in inherited and sporadic basal cell carcinomas.
Bal E.; Park H.S.; Belaid-Choucair Z.; Kayserili H.; Naville M.; Madrange M.; Chiticariu E.; Hadj-Rabia S.; Cagnard N.; Kuonen F.; Bachmann D.; Huber M.; Le Gall C.; Cote F.; Hanein S.; Rosti R.O.; Aslanger A.D.; Waisfisz Q.; Bodemer C.; Hermine O.; Morice-Picard F.; Labeille B.; Caux F.; Mazereeuw-Hautier J.; Philip N.; Levy N.; Taieb A.; Avril M.F.; Headon D.J.; Gyapay G.; Magnaldo T.; Fraitag S.; Crollius H.R.; Vabres P.; Hohl D.; Munnich A.; Smahi A.;
Nat. Med. 23:1226-1233(2017)
Cited for: FUNCTION; TISSUE SPECIFICITY; SUBCELLULAR LOCATION; VARIANTS LYS-124 AND 217-GLU--PHE-376 DEL; INVOLVEMENT IN DISEASE;
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.