Variant position:  213

Type of variant:  Disease [Disclaimer: Variants classification is intended for research purposes only, not for clinical and diagnostic use. The label disease variant is assigned according to literature reports on probable disease-association that can be based on theoretical reasons. This label must not be considered as a definitive proof for the pathogenic role of a variant.]

Residue change:  From Arginine (R) to Proline (P) at position 213 (R213P, p.Arg213Pro).

Physico-chemical properties:  Change from large size and basic (R) to medium size and hydrophobic (P)

BLOSUM score:  -2

Involvement in disease:  Li-Fraumeni syndrome (LFS) [MIM:151623]: An autosomal dominant familial cancer syndrome that in its classic form is defined by the existence of a proband affected by a sarcoma before 45 years with a first degree relative affected by any tumor before 45 years and another first degree relative with any tumor before 45 years or a sarcoma at any age. Other clinical definitions for LFS have been proposed and called Li-Fraumeni like syndrome (LFL). In these families affected relatives develop a diverse set of malignancies at unusually early ages. Four types of cancers account for 80% of tumors occurring in TP53 germline mutation carriers: breast cancers, soft tissue and bone sarcomas, brain tumors (astrocytomas) and adrenocortical carcinomas. Less frequent tumors include choroid plexus carcinoma or papilloma before the age of 15, rhabdomyosarcoma before the age of 5, leukemia, Wilms tumor, malignant phyllodes tumor, colorectal and gastric cancers. {ECO:0000269|PubMed:10484981, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:1737852, ECO:0000269|PubMed:1933902, ECO:0000269|PubMed:1978757, ECO:0000269|PubMed:2259385, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:8825920, ECO:0000269|PubMed:9452042}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Variant description:  In LFS; germline mutation and in sporadic cancers; somatic mutation.

Other resources:  

• Variant rs587778720 [ dbSNP | Ensembl ]

Variant position:  213

Protein sequence length:  393

Location on the sequence:   HLIRVEGNLRVEYLDDRNTF  R HSVVVPYEPPEVGSDCTTIH

Residue conservation: 

Human                         HLIRVEGNLRVEYLDDRNTFRHSVVVPYEPPEVGSDCTTIH

                              HLIRVEGNLRAKYLDDRNTFRHSVVVPYEPPEVGSDYTTIH

Rhesus macaque                HLIRVEGNLRVEYSDDRNTFRHSVVVPYEPPEVGSDCTTIH

Mouse                         HLIRVEGNLYPEYLEDRQTFRHSVVVPYEPPEAGSEYTTIH

Rat                           HLIRVEGNPYAEYLDDRQTFRHSVVVPYEPPEVGSDYTTIH

Pig                           HLIRVEGNLRAEYLDDRNTFRHSVVVPYEPPEVGSDCTTIH

Bovine                        HLIRVEGNLRAEYLDDRNTFRHSVVVPYESPEIDSECTTIH

Rabbit                        HLIRVEGNLRAEYLDDRNTFRHSVVVPYEPPEVGSDCTTIH

Sheep                         HLIRVEGNLRAEYFDDRNTFRHSVVVPYESPEIESECTTIH

Cat                           HLIRVEGNLHAKYLDDRNTFRHSVVVPYEPPEVGSDCTTIH

Chicken                       HLIRVEGNPQARYHDDETTKRHSVVVPYEPPEVGSDCTTVL

Xenopus laevis                HLMRVEGNLQAYYMEDVNSGRHSVCVPYEGPQVGTECTTVL

Zebrafish                     HLIRVEGNQRANYREDNITLRHSVFVPYEAPQLGAEWTTVL

Sequence annotation in neighborhood:  

The consensus coding sequences of human breast and colorectal cancers.
Sjoeblom T.; Jones S.; Wood L.D.; Parsons D.W.; Lin J.; Barber T.D.; Mandelker D.; Leary R.J.; Ptak J.; Silliman N.; Szabo S.; Buckhaults P.; Farrell C.; Meeh P.; Markowitz S.D.; Willis J.; Dawson D.; Willson J.K.V.; Gazdar A.F.; Hartigan J.; Wu L.; Liu C.; Parmigiani G.; Park B.H.; Bachman K.E.; Papadopoulos N.; Vogelstein B.; Kinzler K.W.; Velculescu V.E.;
Science 314:268-274(2006)
Cited for: VARIANTS [LARGE SCALE ANALYSIS] LEU-134; PHE-157; CYS-163; HIS-175; ARG-177; ARG-193; PRO-213; PHE-241; PHE-242; GLN-248; TRP-248; SER-249; TRP-267; LYS-271; CYS-273; HIS-273; LEU-273; SER-278; ILE-280 AND HIS-281;