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UniProtKB/Swiss-Prot P25445: Variant p.Glu272Gly

Tumor necrosis factor receptor superfamily member 6
Gene: FAS
Variant information

Variant position:  272
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  LP/P [Disclaimer]
The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance

Residue change:  From Glutamate (E) to Glycine (G) at position 272 (E272G, p.Glu272Gly).
Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.

Physico-chemical properties:  Change from medium size and acidic (E) to glycine (G)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -2
The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page

Variant description:  In ALPS1A.
Any additional useful information about the variant.



Sequence information

Variant position:  272
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:   NGVNEAKIDEIKNDNVQDTA  E QKVQLLRNWHQLHGKKEAYD
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                         NGVNEAKIDEIKNDNVQDTAEQKVQLLRNWHQLHGKKEAYD

Rhesus macaque                NGVSEAKIDEIKNDNVQDTAEQKVQLLRNWYQLHGKKDACD

Mouse                         NNIKEGKIDEIMHDSIQDTAEQKVQLLLCWYQSHGKSDAYQ

Rat                           HKIPESKIDEIEHNSPQDAAEQKIQLLQCWYQSHGKTGACQ

Pig                           NGIEETKIDEIMHDNPKDTAEQKVQLLRNWYLYHGKKDAYC

Bovine                        NGMEEAKIDDIMHDNVHETAEQKVQLLRNWYQSHGKKNAYC

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.

TypePositionsDescription
Chain 26 – 335 Tumor necrosis factor receptor superfamily member 6
Topological domain 191 – 335 Cytoplasmic
Domain 230 – 314 Death
Region 212 – 317 Interaction with HIPK3
Alternative sequence 87 – 335 Missing. In isoform 3.
Alternative sequence 104 – 335 Missing. In isoform 2.
Alternative sequence 133 – 335 Missing. In isoform 5.
Alternative sequence 150 – 335 Missing. In isoform 4.
Alternative sequence 221 – 335 Missing. In isoform 7.
Mutagenesis 261 – 261 E -> K. Loss of interaction with FADD.
Mutagenesis 283 – 283 Q -> K. Loss of interaction with FADD.
Mutagenesis 287 – 287 K -> D. Strongly decreased interaction with FADD.
Mutagenesis 291 – 291 Y -> D. Decreased interaction with FADD.
Helix 270 – 282


Literature citations

Defective apoptosis due to a point mutation in the death domain of CD95 associated with autoimmune lymphoproliferative syndrome, T-cell lymphoma, and Hodgkin's disease.
Peters A.M.; Kohfink B.; Martin H.; Griesinger F.; Wormann B.; Gahr M.; Roesler J.;
Exp. Hematol. 27:868-874(1999)
Cited for: VARIANT ALPS1A GLY-272;

The development of lymphomas in families with autoimmune lymphoproliferative syndrome with germline Fas mutations and defective lymphocyte apoptosis.
Straus S.E.; Jaffe E.S.; Puck J.M.; Dale J.K.; Elkon K.B.; Roesen-Wolff A.; Peters A.M.J.; Sneller M.C.; Hallahan C.W.; Wang J.; Fischer R.E.; Jackson C.M.; Lin A.Y.; Baeumler C.; Siegert E.; Marx A.; Vaishnaw A.K.; Grodzicky T.; Fleisher T.A.; Lenardo M.J.;
Blood 98:194-200(2001)
Cited for: VARIANTS ALPS1A PRO-241; VAL-260; ILE-270 AND GLY-272;

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.