Variant position: 121 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 335 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 CRRCRLCDEGHGLEVEINCT RTQNTKCRCKPNFFCNSTVCE
Rhesus macaque CRRCRLCDEGHGLEVEINCT RTQNTKCRCKPNFFCNSAVCE
Mouse CRRCTLCDEEHGLEVETNCT LTQNTKCKCKPDFYCDSPGCE
Rat CRRCAFCDEGHGLEVETNCT RTQNTKCRCKENFYCNASLCD
Pig CRRCRVCDGEHGLEVEKNCT RTQNTKCRCKPNFFCHTSQCE
Bovine CIRCSICDEEHGLEVEQNCT RTRNTKCRCKSNFFCNSSPCE
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
26 – 335 Tumor necrosis factor receptor superfamily member 6
26 – 173 Extracellular
84 – 127 TNFR-Cys 2
118 – 118 N-linked (GlcNAc...) asparagine
136 – 136 N-linked (GlcNAc...) asparagine
107 – 127
87 – 335 Missing. In isoform 3.
104 – 335 Missing. In isoform 2.
112 – 149 GLEVEINCTRTQNTKCRCKPNFFCNSTVCEHCDPCTKC -> DVNMESSRNAHSPATPSAKRKDPDLTWGGFVFFFCQFH. In isoform 4.
112 – 132 GLEVEINCTRTQNTKCRCKPN -> DVNMESSRNAHSPATPSAKRK. In isoform 5.
Missense mutations in the Fas gene resulting in autoimmune lymphoproliferative syndrome: a molecular and immunological analysis.
Bettinardi A.; Brugnoni D.; Quiros-Roldan E.; Malagoli A.; La Grutta S.; Correra A.; Notarangelo L.D.;
Cited for: VARIANTS ALPS1A TRP-121 AND CYS-232;
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.