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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O60216: Variant p.Ala622Thr

Double-strand-break repair protein rad21 homolog
Gene: RAD21
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Variant information Variant position: help 622 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 Alanine (A) to Threonine (T) at position 622 (A622T, p.Ala622Thr). 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 small size and hydrophobic (A) to medium size and polar (T) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 0 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 MGS; causes delayed food transit along the gut, when tested in zebrafish; may affect RUNX1 and APOB expression. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 622 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 631 The length of the canonical sequence.
Location on the sequence: help VLKKQQAIELTQEEPYSDII A TPGPRFHII 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                         VLKKQQAIELTQEEPYSDIIATP---GPRFHII

Mouse                         VLKKQQAIELTQEEPYSDIIATP---GPRF

Bovine                        VLKKQQAIELTQEEPYSDIIATP---GPRF

Xenopus laevis                VLKKQQAIELTQREPYSDIVATP---GPRF

Fission yeast                 VLATKDVISVKQDVAIQNEITLTAKRGMLL

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 1 – 631 Double-strand-break repair protein rad21 homolog
Chain 280 – 631 64-kDa C-terminal product
Modified residue 623 – 623 Phosphothreonine



Literature citations
Mutations in RAD21 disrupt regulation of APOB in patients with chronic intestinal pseudo-obstruction.
Bonora E.; Bianco F.; Cordeddu L.; Bamshad M.; Francescatto L.; Dowless D.; Stanghellini V.; Cogliandro R.F.; Lindberg G.; Mungan Z.; Cefle K.; Ozcelik T.; Palanduz S.; Ozturk S.; Gedikbasi A.; Gori A.; Pippucci T.; Graziano C.; Volta U.; Caio G.; Barbara G.; D'Amato M.; Seri M.; Katsanis N.; Romeo G.; De Giorgio R.;
Gastroenterology 148:771-782(2015)
Cited for: INVOLVEMENT IN MGS; VARIANT MGS THR-622; CHARACTERIZATION OF VARIANT MGS THR-622; FUNCTION; INTERACTION WITH SMC1; TISSUE SPECIFICITY;
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.