Variant position: 69 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 243 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 DNGCSRCQQKLFFFLRREGM RQYGECLHSCPSGYYGHRAPD
Mouse DNGCSRCQQKLFFFLRREGM RQYGECLHSCPSGYYGHRAPD
Xenopus laevis DNGCLRCQPKLFFFLRREGM RQYGECLQSCPPGYYGVRGPD
Xenopus tropicalis DNGCLRCQPKLFFYLRREGM RQYGECLQSCPPGYYGVRGPD
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
22 – 243 R-spondin-2
55 – 74
32 – 95 ASYVSNPICKGCLSCSKDNGCSRCQQKLFFFLRREGMRQYGECLHSCPSGYYGHRAPDMNRCAR -> G. In isoform 3.
RSPO2 inhibition of RNF43 and ZNRF3 governs limb development independently of LGR4/5/6.
Szenker-Ravi E.; Altunoglu U.; Leushacke M.; Bosso-Lefevre C.; Khatoo M.; Thi Tran H.; Naert T.; Noelanders R.; Hajamohideen A.; Beneteau C.; de Sousa S.B.; Karaman B.; Latypova X.; Basaran S.; Yuecel E.B.; Tan T.T.; Vlaminck L.; Nayak S.S.; Shukla A.; Girisha K.M.; Le Caignec C.; Soshnikova N.; Uyguner Z.O.; Vleminckx K.; Barker N.; Kayserili H.; Reversade B.;
Cited for: INVOLVEMENT IN TETAMS2; VARIANTS TETAMS2 70-GLN--GLN-243 DEL AND 137-GLU--GLN-243 DEL; INVOLVEMENT IN HHRRD; VARIANT HHRRD CYS-69; CHARACTERIZATION OF VARIANT TETAMS2 70-GLN--GLN-243; CHARACTERIZATION OF VARIANT HHRRD CYS-69; FUNCTION; INTERACTION WITH LGR5; RNF43 AND ZNRF3; MUTAGENESIS OF PHE-105 AND PHE-109;
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.