Sequence information
Variant position: 332 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 462 The length of the canonical sequence.
Location on the sequence:
GQRVYVVAERDGDRRLLPAA
V HSVTLSEEAAGAYAPLTAQG
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 GQRVYVVAERDGDRRLLPAAV HSVTLSEEAAGAYAPLTAQG
Mouse GQRVYVVAERGGDRRLLPAAV HSVTLREEEAGAYAPLTAHG
Rat GQRVYVVAERGGDRRLLPAAV HSVTLREEAAGAYAPLTADG
Chicken GQRVYVLGE--GGQQLLPASV HSVSLREEASGAYAPLTAQG
Xenopus laevis GDLIYTADP--KTMTLKAVKV EKVDL-EEDTGAYAPLTAHG
Zebrafish GQKVMVVDDSGQLKSVIVQRI YT----EEQRGSFAPVTAHG
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
Chain
24 – 462
Sonic hedgehog protein
Literature citations
Solitary median maxillary central incisor syndrome: clinical case with a novel mutation of sonic hedgehog.
Garavelli L.; Zanacca C.; Caselli G.; Banchini G.; Dubourg C.; David V.; Odent S.; Gurrieri F.; Neri G.;
Am. J. Med. Genet. A 127:93-95(2004)
Cited for: VARIANT SMMCI ALA-332;
Molecular screening of SHH, ZIC2, SIX3, and TGIF genes in patients with features of holoprosencephaly spectrum: mutation review and genotype-phenotype correlations.
Dubourg C.; Lazaro L.; Pasquier L.; Bendavid C.; Blayau M.; Le Duff F.; Durou M.-R.; Odent S.; David V.;
Hum. Mutat. 24:43-51(2004)
Cited for: VARIANTS HPE3 THR-6; HIS-100; 106-LEU-ASN-107 DEL; ASP-110; ARG-150; 176-GLU--LYS-178 DEL; GLN-188; ASN-222; PRO-271; ALA-332; GLN-347; THR-354 AND PRO-381;
The mutational spectrum of holoprosencephaly-associated changes within the SHH gene in humans predicts loss-of-function through either key structural alterations of the ligand or its altered synthesis.
Roessler E.; El-Jaick K.B.; Dubourg C.; Velez J.I.; Solomon B.D.; Pineda-Alvarez D.E.; Lacbawan F.; Zhou N.; Ouspenskaia M.; Paulussen A.; Smeets H.J.; Hehr U.; Bendavid C.; Bale S.; Odent S.; David V.; Muenke M.;
Hum. Mutat. 30:E921-E935(2009)
Cited for: VARIANTS HPE3 THR-6; PRO-17; LEU-26; ALA-27; ARG-31; PRO-39; LYS-53; VAL-83; PHE-84; VAL-88; HIS-100; ARG-102; TYR-102; 106-LEU-ASN-107 DEL; PHE-109; THR-110; ASP-110; PHE-111; ASN-111; LYS-115; GLY-117; ARG-117; MET-124; LYS-136; PRO-140; GLN-140; ASP-143; PRO-144; ASN-147; ARG-150; LYS-150; ARG-156; CYS-170; HIS-171; 176-GLU--LYS-178 DEL; ARG-183; PHE-183; TYR-183; LEU-184; GLN-188; GLU-196; 196-GLY--PRO-200 DEL; VAL-197; SER-198; PHE-198; PRO-218; ASN-222; GLU-224; THR-226; VAL-231; GLY-232; PRO-234; ARG-236; ASN-236; VAL-241; LEU-241; ASN-255; 263-ARG--ALA-269 DEL; ILE-267; PRO-271; GLU-275; TRP-280; ASP-290; ALA-296; CYS-310; SER-321; ALA-332; VAL-346; ARG-347; GLN-347; LEU-347; THR-354; LEU-362; TYR-363; CYS-364; THR-373; ARG-374; ASP-376; SER-377; 378-ALA--PHE-380 DEL; PRO-381; PRO-382; THR-383; THR-391; 402-GLY--GLY-409 DEL; 405-ASP--GLY-409 DEL; GLY-411 INS; ALA-416; ALA-424; ASN-435; LEU-436 AND ARG-456;
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.