Variant position: 265 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 725 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 PPMKDMFKLLMFPESRIFQA ENAKIKREWLEVLEDTKRALS
Mouse PPMKDMFKLLMFPESRIFQA ENAKIKREWLEVLEETKRALS
Rat PPMKDMFKLLMFPESRIFQA ENAKIKREWLEVLEETKRALS
Bovine PPMKDMFKLLMFPESRIFQA ENAKIKREWLEVLEETKRALS
Chicken PPMKDMFKLLMFPESRIFQA ENAKIKKEWLEVLEETKRNRA
Xenopus laevis PPMKDMFKILMFPESRIFQA ENAKIKKEWLEILEQTKKNKA
Slime mold --MLDFRNLISDYGNVMSSL QNISISWDHYKV---------
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
1 – 725 Exocyst complex component 8
182 – 282 PH
Exome sequencing can improve diagnosis and alter patient management.
Dixon-Salazar T.J.; Silhavy J.L.; Udpa N.; Schroth J.; Bielas S.; Schaffer A.E.; Olvera J.; Bafna V.; Zaki M.S.; Abdel-Salam G.H.; Mansour L.A.; Selim L.; Abdel-Hadi S.; Marzouki N.; Ben-Omran T.; Al-Saana N.A.; Sonmez F.M.; Celep F.; Azam M.; Hill K.J.; Collazo A.; Fenstermaker A.G.; Novarino G.; Akizu N.; Garimella K.V.; Sougnez C.; Russ C.; Gabriel S.B.; Gleeson J.G.;
Sci. Transl. Med. 4:138RA78-138RA78(2012)
Cited for: VARIANT GLY-265;
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