Variant position: 182 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 373 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 LPYA-MKPIDYYTETKILQER AVLGANDPEKNFLTTAIRPHG
Mouse LPYA-MKPIDYYTETKILQER AVLDANDPKKNFLTAAIRPH
Rat LPYA-MKPIDYYTETKILQER AVLDANDPKKNFLTAAIRPH
Bovine LPYA-TKPIDYYTETKILQER AVLGAHDPEKNFLTTAIRPH
Slime mold TPYPPIEQLGWYNKSKAISEQ FLLATQSSMSRMKTIVIRLP
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 – 373 Sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating
172 – 172 Proton acceptor
176 – 176 NAD
171 – 185
A novel missense mutation of NSDHL in an unusual case of CHILD syndrome showing bilateral, almost symmetric involvement.
Konig A.; Happle R.; Fink-Puches R.; Soyer H.P.; Bornholdt D.; Engel H.; Grzeschik K.H.;
J. Am. Acad. Dermatol. 46:594-596(2002)
Cited for: VARIANT CHILD PRO-182;
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