Variant position: 379 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 531 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 TPIIIIPAATTSLITMLNAK DLLQDLKFV-PSDEKKKQGCQR
Mouse TPIIIIPAATTSLITMLNAK DLLQDLKFV-PSDEKKKQGCQ
Rat TPIIIIPAATTSLITMLNAK DLLQDLKFV-PSDEKKKQGCQ
Chicken TPIIIIPAATTSLITMLNAK DLLQDLKFV-PSDEKKKQGCQ
Caenorhabditis elegans SPIIIVPSAMNTMINLYNVR DILQNFSYV-PVDQRRKETNK
Baker's yeast DPIILIPSAASSILTVANIK QFLLESKYVNPRNLPSVPNGL
Fission yeast DPIILLSPSASSLLTMHNIK KFLEEGIFVPPAEAAHAAGGG
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
2 – 531 Parafibromin
200 – 531 Interaction with POLR2A and PAF1
Parafibromin mutations in hereditary hyperparathyroidism syndromes and parathyroid tumours.
Bradley K.J.; Cavaco B.M.; Bowl M.R.; Harding B.; Cranston T.; Fratter C.; Besser G.M.; Conceicao Pereira M.; Davie M.W.; Dudley N.; Leite V.; Sadler G.P.; Seller A.; Thakker R.V.;
Clin. Endocrinol. (Oxf.) 64:299-306(2006)
Cited for: VARIANT HRPT2 ASN-379; VARIANT HRPT1 PRO-95; INVOLVEMENT IN HRPT1;
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.