Variant position: 20 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 760 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 MMDQARSAFSNLFGGEPLS YTRFSLARQVDGDNSHVEMKL
Mouse MMDQARSAFSNLFGGEPLS YTRFSLARQVDGDNSHVEMKL
Rat MMDQARSAFSNLFGGEPLS YTRFSLARQVDGDNSHVEMKL
Pig MMDQARSAFSSLFGGEPLS YTRFSLARQVDGDNSHVEMKL
Cat MMDQARSAFSTLFGGEPLS YTRFSLARQVDGDNSHVEMKL
Horse -MDQARSAFSNLFGGAPLS YTRFSLARQVDGDNSHVEMKL
Chicken -MDHARAALSNLFSVEPMS YTRFSIARQTDGDNSHVEMKL
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 – 760 Transferrin receptor protein 1
1 – 67 Cytoplasmic
1 – 67 Mediates interaction with SH3BP4
20 – 23 Endocytosis signal
10 – 10 Phosphoserine
19 – 19 Phosphoserine
20 – 20 Phosphotyrosine
21 – 21 Phosphothreonine
24 – 24 Phosphoserine
20 – 34 YTRFSLARQVDGDNS -> PPGYSLARQVDYTRF. No influence on endocytic uptake of the receptor.
20 – 23 YTRF -> PPGY. Only 16% as active as wild-type receptor.
20 – 20 Y -> C. Only 35% as active as wild-type receptor.
20 – 20 Y -> G. Only 20% as active as wild-type receptor.
21 – 21 T -> F. Only 88% as active as wild-type receptor.
21 – 21 T -> TA. Only 14% as active as wild-type receptor.
21 – 21 T -> TAA. Only 19% as active as wild-type receptor.
23 – 23 F -> Y. Only 48% as active as wild-type receptor.
A missense mutation in TFRC, encoding transferrin receptor 1, causes combined immunodeficiency.
Jabara H.H.; Boyden S.E.; Chou J.; Ramesh N.; Massaad M.J.; Benson H.; Bainter W.; Fraulino D.; Rahimov F.; Sieff C.; Liu Z.J.; Alshemmari S.H.; Al-Ramadi B.K.; Al-Dhekri H.; Arnaout R.; Abu-Shukair M.; Vatsayan A.; Silver E.; Ahuja S.; Davies E.G.; Sola-Visner M.; Ohsumi T.K.; Andrews N.C.; Notarangelo L.D.; Fleming M.D.; Al-Herz W.; Kunkel L.M.; Geha R.S.;
Nat. Genet. 48:74-78(2016)
Cited for: INVOLVEMENT IN IMD46; VARIANT IMD46 HIS-20; CHARACTERIZATION OF VARIANT IMD46 HIS-20; FUNCTION; INTERACTION WITH STEAP3;
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.