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UniProtKB/Swiss-Prot Q14623: Variant p.Asp100Glu

Indian hedgehog protein
Gene: IHH
Variant information

Variant position:  100
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  LP/P [Disclaimer]
The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance

Residue change:  From Aspartate (D) to Glutamate (E) at position 100 (D100E, p.Asp100Glu).
Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.

Physico-chemical properties:  Similar physico-chemical property. Both residues are medium size and acidic.
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  2
The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page

Variant description:  In BDA1; decreases the stability of the indian hedgehog protein N-product.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  100
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  411
The length of the canonical sequence.

Location on the sequence:   ELTPNYNPDIIFKDEENTGA  D RLMTQRCKDRLNSLAISVMN
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                         ELTPNYNPDIIFKDEENTGADRLMTQRCKDRLNSLAISVMN

Mouse                         ELTPNYNPDIIFKDEENTGADRLMTQRCKDRLNSLAISVMN

Chicken                       ELTPNYNPDIIFKDEENTGADRLMTQRCKDRLNSLAISVMN

Xenopus laevis                ELTPNYNPDIIFKDEEITGADRLMTQRCKDRLNSLAISVMN

Zebrafish                     ELTPNYNPDIIFKDEENTGADRMMTQRCKDKLNSLAISVMN

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.

TypePositionsDescription
Chain 28 – 411 Indian hedgehog protein
Chain 28 – 202 Indian hedgehog protein N-product
Metal binding 94 – 94 Calcium 1
Metal binding 95 – 95 Calcium 1
Metal binding 95 – 95 Calcium 2
Metal binding 100 – 100 Calcium 1
Mutagenesis 95 – 95 E -> G. Increases the lysosomal degradation of the indian hedgehog protein N-product.
Helix 99 – 101


Literature citations

Indian hedgehog mutations causing brachydactyly type A1 impair Hedgehog signal transduction at multiple levels.
Ma G.; Yu J.; Xiao Y.; Chan D.; Gao B.; Hu J.; He Y.; Guo S.; Zhou J.; Zhang L.; Gao L.; Zhang W.; Kang Y.; Cheah K.S.; Feng G.; Guo X.; Wang Y.; Zhou C.Z.; He L.;
Cell Res. 21:1343-1357(2011)
Cited for: X-RAY CRYSTALLOGRAPHY (1.44 ANGSTROMS) OF 28-202 OF WILD TYPE AND VARIANTS BDA1 LYS-95; GLU-100 AND LYS-131 IN COMPLEX WITH ZINC IONS; FUNCTION; SUBUNIT; INTERACTION WITH PTCH1; SUBCELLULAR LOCATION; CHOLESTERYLATION; PALMITOYLATION; MUTAGENESIS OF GLU-95; DOMAIN; CHARACTERIZATION OF VARIANTS BDA1 LYS-95; ASN-100; GLU-100 AND LYS-131;

Mutations in IHH, encoding Indian hedgehog, cause brachydactyly type A-1.
Gao B.; Guo J.; She C.; Shu A.; Yang M.; Tan Z.; Yang X.; Guo S.; Feng G.; He L.;
Nat. Genet. 28:386-388(2001)
Cited for: VARIANTS BDA1 LYS-95; GLU-100 AND LYS-131;

Disclaimer: 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.