Info

776deIC 778deIT

W220X Y227X 924insC

S253X Q261X

K262X Y268X W265X

1054insA 1089deIT Y323X

Q349X W341X

1298deI4 1300deIC 1325deIG 1363deIAC 1374deIA 1377insG 1381insG

1486deI23 1491insCC 1498deI8 1499dup8 1508ins17 1525insG 1583insC 1593insC 1607deIA 1530insC

1170deIT

E388X

1424deIA 1429deITT 1429ins4 1449deI11 1452deI11 R415X Y436X R460X

1713deI29 1768deIT 1778ins8 1782del4 1636deIG 1650insC/G 1650deIC 1700deIA Q536X R527X

aa number

JunD

1 40

Smad3

467deIGAA 817deI9

699deIACC 1.223P

JunD

NFkappaB

F144C

G42D R98L

A160P - A160T V162F-A164D C165R D172Y

C240F

G281R T311P D357H 1362deI12 1487ins6 1780deIAGA A284Q R314P A368D 1384deIAGG P450S G532C

H317Y 1372M D418N S555N

11317R 1182deIGAG S555R A337D W34IR

Figure 20-1. Schematic representation of the MEN1 gene indicating the intron-exon organization, as well as the relative location, type, and distribution of germline mutations characterized in patients with MEN1. Functional domains of menin that interact with JUND,SMAD3,and NFKB are indicated below the gene map. (From Wautot V,Vercherat

C, Lespinasse J, et al. Germline mutation profile of MEN1 in multiple endocrine neoplasias type 1: search for correlations between phenotype and the functional domains of the MEN1 protein. Hum Mutat 2002;20:35-47, copyright © 2002. Reprinted by permission of Wiley-Liss, Inc, a subsidiary of John Wiley and Sons, Inc.)

(http://uwcmml1s.uwcm.ac.uk/uwcm/mg/search/120173. html) and the Weizmann Institute of Science, GeneCards (http://www.genecards.org/cgi-bin/carddisp.pl? gene=MEN1).

Was this article helpful?

0 0

Post a comment