Variant position: 72 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 198 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 AVETFQKLQKAKEILTNEES RARYDHWRRSQMSMPFQQWEA
Mouse AVETFQKLQKAKEILCNAES RARYDHWRRSQMSMPFEQWEA
Rat AVETFQKLQKAKEILSNAES RARYDHWRRSQMSMSFEQWEA
Bovine AVETFQKLQKAKDILTNEAS RARYDHWRRSQMSMSFQQWEA
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.
Biallelic mutations in DNAJC12 cause hyperphenylalaninemia, dystonia, and intellectual disability.
Anikster Y.; Haack T.B.; Vilboux T.; Pode-Shakked B.; Thoeny B.; Shen N.; Guarani V.; Meissner T.; Mayatepek E.; Trefz F.K.; Marek-Yagel D.; Martinez A.; Huttlin E.L.; Paulo J.A.; Berutti R.; Benoist J.F.; Imbard A.; Dorboz I.; Heimer G.; Landau Y.; Ziv-Strasser L.; Malicdan M.C.; Gemperle-Britschgi C.; Cremer K.; Engels H.; Meili D.; Keller I.; Bruggmann R.; Strom T.M.; Meitinger T.; Mullikin J.C.; Schwartz G.; Ben-Zeev B.; Gahl W.A.; Harper J.W.; Blau N.; Hoffmann G.F.; Prokisch H.; Opladen T.; Schiff M.;
Am. J. Hum. Genet. 100:257-266(2017)
Cited for: INVOLVEMENT IN HPANBH4; VARIANT HPANBH4 PRO-72; CHARACTERIZATION OF VARIANT HPANBH4 PRO-72;
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.