Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P01222: Variant p.Thr73Pro

Thyrotropin subunit beta
Gene: TSHB
Feedback?
Variant information Variant position: help 73 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help 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: help From Threonine (T) to Proline (P) at position 73 (T73P, p.Thr73Pro). 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: help Change from medium size and polar (T) to medium size and hydrophobic (P) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -1 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: help In CHNG4. Any additional useful information about the variant.


Sequence information Variant position: help 73 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 138 The length of the canonical sequence.
Location on the sequence: help TRDINGKLFLPKYALSQDVC T YRDFIYRTVEIPGCPLHVAP 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         TRDINGKLFLPKYALSQDVCTYRDFIYRTVEIPGCPLHVAP

                              TRDINGKLFLPKYALSQDVCTYRDFMYKTVEIPGCPRHVTP

Mouse                         TRDINGKLFLPKYALSQDVCTYRDFIYRTVEIPGCPHHVTP

Rat                           TRDINGKLFLPKYALSQDVCTYRDFTYRTVEIPGCPHHVAP

Pig                           TRDFNGKLFLPKYALSQDVCTYRDFMYKTVEIPGCPHHVTP

Bovine                        TRDVNGKLFLPKYALSQDVCTYRDFMYKTAEIPGCPRHVTP

Cat                           TRDINGKLFLPKYALSQDVCTYRDFLYKTVEIPGCPHHVTP

Horse                         TRDINGKLFLPKYALSQDVCTYRDFMYKTVEIPGCPDHVTP

Chicken                       TRDSNGKKLLLKSALSQNVCTYKEMFYQTALIPGCPHHTIP
Sequence annotation in neighborhood: help 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 21 – 132 Thyrotropin subunit beta
Disulfide bond 36 – 87
Disulfide bond 39 – 125
Disulfide bond 47 – 103
Disulfide bond 51 – 105
Beta strand 71 – 83



Literature citations
Novel TSHB variant (c.217A>C) causing severe central hypothyroidism and pituitary hyperplasia.
Kaplan A.I.; Luxford C.; Clifton-Bligh R.J.;
Endocrinol. Diabetes Metab. Case Rep. 2022:0-0(2022)
Cited for: VARIANT CHNG4 PRO-73;
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.