Variant position: 141 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 279 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 EGQTLRDSMLKYPDSHQPRI FGGVLESDARSESPQPAPDWG
Mouse EGQTLRDSMLKYPDSHQPRI FEGVLESHAKPESPKPAPDWG
Rat EGQTLRDSMLKYPDSHQPRI FEGVLESHAKPESSKPAPDWG
Bovine EGQTLRDSMLKYPDSHQPKI FGGGLESDARSESSKPAPDWG
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
2 – 279 HCLS1-associated protein X-1
99 – 262 Disordered
114 – 279 Involved in HCLS1 binding
85 – 264 VRDFNSIFSDMGAWTLPSHPPELPGPESETPGERLREGQTLRDSMLKYPDSHQPRIFGGVLESDARSESPQPAPDWGSQRPFHRFDDVWPMDPHPRTREDNDLDSQVSQEGLGPVLQPQPKSYFKSISVTKITKPDGIVEERRTVVDSEGRTETTVTRHEADSSPRGDPESPRPPALDDA -> NFQVLSQRHLVRDYGRDRHFGTQCLSIQIVTSPGSLGGSWRVMQEVNPPNQHQTGAPRGHFIGLMMYGLWTPILEPERTMILIPRFPRRVLARFYSPSPNPISRASL. In isoform 6.
125 – 279 Missing. In isoform 4.
A novel missense mutation in the HAX1 gene in severe congenital neutropenia patients (Kostmann disease).
Faiyaz-Ul-Haque M.; Al-Jefri A.; Abalkhail H.A.; Toulimat M.; Al-Muallimi M.A.; Pulicat M.S.; Gaafar A.; Alaiya A.A.; Al-Dayel F.; Peltekova I.; Zaidi S.H.;
Clin. Genet. 76:569-572(2009)
Cited for: VARIANT SCN3 LEU-141;
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