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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9C004: Variant p.Thr77Met

Protein sprouty homolog 4
Gene: SPRY4
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Variant information Variant position: help 77
Type of variant: help LP/P [Disclaimer]
Residue change: help From Threonine (T) to Methionine (M) at position 77 (T77M, p.Thr77Met).
Physico-chemical properties: help Change from medium size and polar (T) to medium size and hydrophobic (M)
BLOSUM score: help -1
Variant description: help In HH17; phenotype consistent with Kallmann syndrome.
Other resources: help


Sequence information Variant position: help 77
Protein sequence length: help 299
Location on the sequence: help SLALTTGPKRTRGGAPELAP T PARCDQDVTHHWISFSGRPS
Residue conservation: help
Human                         SLALTTGPKRTRGGAPELAPTPARCDQDVTHHWISFSGRPS

Mouse                         SLAPATGPKRPRGGPPELAPTPARCDQDITHHWISFSGRPS

Bovine                        GLAPPSGPKRTRGGAPELAPTPARCDQDVTHHWISFSGRPS

Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 299 Protein sprouty homolog 4
Region 55 – 79 Disordered



Literature citations
Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism.
Miraoui H.; Dwyer A.A.; Sykiotis G.P.; Plummer L.; Chung W.; Feng B.; Beenken A.; Clarke J.; Pers T.H.; Dworzynski P.; Keefe K.; Niedziela M.; Raivio T.; Crowley W.F. Jr.; Seminara S.B.; Quinton R.; Hughes V.A.; Kumanov P.; Young J.; Yialamas M.A.; Hall J.E.; Van Vliet G.; Chanoine J.P.; Rubenstein J.; Mohammadi M.; Tsai P.S.; Sidis Y.; Lage K.; Pitteloud N.;
Am. J. Hum. Genet. 92:725-743(2013)
Cited for: VARIANTS HH17 MET-77; ASN-82; ARG-154; TYR-186; TYR-218; MET-258 AND ILE-281;
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.