UniProtKB/SwissProt variant VAR

DNA mismatch repair protein Mlh1
Gene: MLH1
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Variant information Variant position:

384
Type of variant:

LB/B
Residue change:

From Valine (V) to Aspartate (D) at position 384 (V384D, p.Val384Asp).
Physico-chemical properties:

Change from medium size and hydrophobic (V) to medium size and acidic (D)
BLOSUM score:

-3
Variant description:

Probable risk factor for HNPCC in some populations.
Other resources:

Variant rs63750447 [ dbSNP | Ensembl ]

Sequence information Variant position:

384
Protein sequence length:

756
Location on the sequence:

TSLTSSSTSGSSDKVYAHQM V RTDSREQKLDAFLQPLSKPL
Residue conservation:

Human                         TSLTSSSTSGSSD----KVYAHQMVRTDSREQKLDAFLQPL---SKPL

Mouse                         TGVASSSTSGSGD----KVYAYQMVRTDSREQKLDAFLQPV

Rat                           TGIASSSTSGSGD----KVHAYQMVRTDSRDQKLDAFMQPV

Slime mold                    TNNNNNPTSRKEP----IEYAKDKIRSDSKSQTLDAFLNPM

Baker's yeast                 QVVENSYTTANSQLRKAKRQENKLVRIDASQAKITSFLSSS

Fission yeast                 NTKNAESSSQKAV----RTYENYLVRTDPRERSIKSMLS--

Sequence annotation in neighborhood:

Type	Positions	Description
Chain	2 – 756	DNA mismatch repair protein Mlh1

Literature citations
Mutational analysis of mismatch repair genes, hMLH1 and hMSH2, in sporadic endometrial carcinomas with microsatellite instability.
Kobayashi K.; Matsushima M.; Koi S.; Saito H.; Sagae S.; Kudo R.; Nakamura Y.;
Jpn. J. Cancer Res. 87:141-145(1996)
Cited for: VARIANTS LEU-ASN-HIS-37 INS AND ASP-384; A novel missense mutation in the DNA mismatch repair gene hMLH1 present among East Asians but not among Europeans.
Wang Y.; Friedl W.; Lamberti C.; Noethen M.M.; Kruse R.; Propping P.;
Hum. Hered. 48:87-91(1998)
Cited for: VARIANT ASP-384; ASSOCIATION WITH HNPCC; Enhanced detection of deleterious and other germline mutations of hMSH2 and hMLH1 in Japanese hereditary nonpolyposis colorectal cancer kindreds.
Nomura S.; Sugano K.; Kashiwabara H.; Taniguchi T.; Fukayama N.; Fujita S.; Akasu T.; Moriya Y.; Ohhigashi S.; Kakizoe T.; Sekiya T.;
Biochem. Biophys. Res. Commun. 271:120-129(2000)
Cited for: VARIANTS LYNCH2 VAL-111 AND PRO-588; VARIANTS VAL-219 AND ASP-384;

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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P40692: Variant p.Val384Asp