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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P43246: Variant p.Leu173Pro

DNA mismatch repair protein Msh2
Gene: MSH2
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Variant information Variant position: help 173
Type of variant: help LP/P [Disclaimer]
Residue change: help From Leucine (L) to Proline (P) at position 173 (L173P, p.Leu173Pro).
Physico-chemical properties: help Similar physico-chemical property. Both residues are medium size and hydrophobic.
BLOSUM score: help -3
Variant description: help In LYNCH1; decreased mismatch repair activity; affects protein stability; loss of protein expression.
Other resources: help


Sequence information Variant position: help 173
Protein sequence length: help 934
Location on the sequence: help SAVDGQRQVGVGYVDSIQRK L GLCEFPDNDQFSNLEALLIQ
Residue conservation: help 
Human                         SAV-DGQRQVGVGYVDSIQRKLGLCEFPDNDQFSNLEALLIQ

Mouse                         AVV-DGQRHVGVGYVDSTQRKLGLCEFPENDQFSNLEALLI

Rat                           STV-DGQRQVGVGDVDSTQRKLGLCEFPDNDQFSNLEALLI

Bovine                        STV-DGQRQVGVGYVDSTQRKLGLCEFPDNDQFSNLEALLI

Drosophila                    KLDGGGQRRVGVASVEQNDCKFQLLEFLDDDFFTELEATVV

Slime mold                    TRE-KGSIVFGISFGDATFKTIGVSQFMDNDNLSNLSSFIM

Baker's yeast                 NSQ-DGNCIIGVAFIDTTAYKVGMLDIVDNEVYSNLESFLI

Fission yeast                 RVK-QDQRIIGVAFIDPILKKLGVSEFVDSDAYTNFEALIV
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 2 – 934 DNA mismatch repair protein Msh2
Beta strand 172 – 179



Literature citations
Verification of the three-step model in assessing the pathogenicity of mismatch repair gene variants.
Kansikas M.; Kariola R.; Nystroem M.;
Hum. Mutat. 32:107-115(2011)
Cited for: CHARACTERIZATION OF VARIANTS LYNCH1 PRO-33; MET-44; VAL-45; SER-127; MET-145; ASP-161; ARG-162; ARG-164; PRO-173; ARG-187; PRO-187; VAL-272; TYR-333; LEU-519; ASN-603; PRO-636; ALA-674; VAL-688; PHE-697; 745-ILE-ILE-746 DEL; LYS-749; THR-834; GLY-886 AND GLU-923; CHARACTERIZATION OF VARIANTS ASP-322 AND ILE-722; FUNCTION; Pathogenicity of MSH2 missense mutations is typically associated with impaired repair capability of the mutated protein.
Ollila S.; Sarantaus L.; Kariola R.; Chan P.; Hampel H.; Holinski-Feder E.; Macrae F.; Kohonen-Corish M.; Gerdes A.-M.; Peltomaeki P.; Mangold E.; de la Chapelle A.; Greenblatt M.; Nystroem M.;
Gastroenterology 131:1408-1417(2006)
Cited for: VARIANTS LYNCH1 PRO-33; ASP-161; ARG-162; ARG-164; PRO-173; PRO-187; TYR-333; ASN-603; PRO-636; PHE-697; 745-ILE-ILE-746 DEL AND LYS-749; VARIANTS VAL-272; THR-834 AND GLU-923; CHARACTERIZATION OF VARIANTS LYNCH1 PRO-33; ASP-161; ARG-162; ARG-164; PRO-173; PRO-187; TYR-333; ASN-603; PRO-636; PHE-697; 745-ILE-ILE-746 DEL AND LYS-749; CHARACTERIZATION OF VARIANTS VAL-272; THR-834 AND GLU-923; Mechanisms of pathogenicity in human MSH2 missense mutants.
Ollila S.; Dermadi Bebek D.; Jiricny J.; Nystroem M.;
Hum. Mutat. 29:1355-1363(2008)
Cited for: CHARACTERIZATION OF VARIANTS LYNCH1 PRO-33; SER-127; ASP-161; ARG-162; ARG-164; PRO-173; PRO-187; VAL-272; TYR-333; ASN-603; PRO-636; ALA-674; PHE-697; 745-ILE-ILE-746 DEL; LYS-749; THR-834 AND GLU-923; CHARACTERIZATION OF VARIANT ASP-322;
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.