Retinoschisis 1 gene

Ensembl gene entry
Ensembl gene location
Omim gene
Genetics Home Reference entry

Diseases associated to this gene:

Finnish Mutations

Mutation Consequence Amino acid change Reference sequence Articles
c.214G>A E72K AF014459 9760195, 11295123, 9618178, 10234514
c.221G>T G74V AF014459 9618178, 10234514
c.312C>G N104K 10234514
c.325G>C G109R AF014459 9618178, 10234514, 9326935
c.554C>A T185K 10234514
c.608C>T P203L AF014459 10636740, 9618178, 17515881, 10234514, 16167295
c.625C>G R209G 10234514

Foreign Mutations

Mutation Consequence Amino acid change Reference sequence Population Articles
576-577insT frameshift AF014459 Austrian 9618178
A211T A211T Japanese 12383832
E146D E146D Japanese 9760195
E26D E26D British 15937075
E72Q E72Q Chinese 11295123
G109E G109E Japanese 10220153
Hiraoka-1 Unknown 10679210
Huopaniemi-1 Danish 11013441
IVS2+1G>A Japanese 12383832
IVS2-2A>G splice acceptor site mutation Unknown 9326935
K167N K167N Japanese 12920343
K167X K167X Taiwanese 11058916
Kjellström 1 Unknown 20569020
L103F L103F Korean 16768192
M1V M1V Japanese 10220153
P193L P193L Japanese 9760195
Q154X Q154X Japanese 9760195
Q88X Q88X Japanese 10220153
R102Q R102Q Japanese 9760195
R197C R197C Unknown 10079181
R213Q R213Q Japanese 9760195
Rodriguez-1 a normal 17-bp area with an abnormal 20-bp sequence: a very unusual mutation, possibly caused by early Okazaki fragment replacement of the sense strand during DNA replication. The aberrant 20-bp sequence that replaces the normal 17-bp sequence matches two sequence segments in the reverse complementary orientation in two different places in exon 4 (Fig. 4). This is suggestive of a replacement of the normal 17-bp sequence by two early intermediates of Okazaki fragments,6 one 9 bases in length and another 10 bases in length (Fig. 4), during a DNA replication event Unknown 9699564
Rodriguez-2 a rare deletion that could disturb the RNA splicing. This deletion, even if the splicing were to occur, shifts the open reading frame by inserting a stop codon and causing premature termination at residue 18 Unknown 9699564
Shinoda-1 Japanese 10454824
Shinoda-2 Japanese 11035549
W163X W163X Japanese 10220153
W92C W92C Japanese 9760195
W96X W96X Japanese 12920343
Y89X Y89X Unknown 10079181
c.1-52delExon1+promoter No expression? AF014459 Swedish 10533068
c.103C>T Q35X NM 000330 Australian 15932525
c.120C>A C40X AF014459 German, Swedish, American 9618178
c.120C>T C40X Unknown 9326935
c.175T>A C59S AF014459 German 9618178
c.181-184+10del splice donor site mutation? AF014459 German 9618178
c.184+1G>C splice donor site mutation? AF014459 American 9618178
c.185-1G>C splice acceptor site mutation? AF014459 French 9618178
c.185-326del frameshift AF014459 German 9618178
c.194A>G Y65C AF014459 German 9618178
c.194delA frameshift AF014459 American 10533068
c.195delT frameshift Japanese 10636421
c.1A>T M1L Unknown 17031297
c.206T>C Chinese 17296904
c.208G>A G70S AF014459 American, Chinese 11295123, 9618178
c.208G>C G70A AF014459 American 10533068
c.214G>A E72K AF014459 German, Swedish, Danish, American, Chinese, British, Japanese, Dutch 9760195, 11295123, 9618178, 10234514
c.216G>C E72D AF014459 French, British 9618178
c.217T>C S73P Japanese 15531314
c.219delA frameshift AF014459 American 10533068
c.221G>T G74V AF014459 Swedish 9618178, 10234514
c.223G>T E75X AF014459 French, Swedish, Italian 9618178
c.238C>T Q80X Spanish 19324861, 17295148
c.242T>A I81N Italian 12928282
c.253-255delAAC N85del AF014459 American 10533068
c.266A>G Y89C AF014459 German 9618178
c.267T>A Y89X AF014459 British 9618178
c.26delT frameshift AF014459 Chinese 17615541, 18369700
c.286T>C W96R AF014459 German, American 9618178, 9326935
c.288G>C Buried residue located in the loop connecting b2 and b3 strands and physically buried in the cavity between spike 1 and spike 2. This change affects the thiol reactivity of protein. Residue is buried inside of protein molecule (ASA ¼ 9 A° 2). Severe change (Blosum70 score 23) suggests protein misfolding and no homo-oligomer secretion W96C Unknown 20061330
c.2T>C M1T AF014459 Dutch 9618178
c.300delG frameshift AF014459 German 9618178
c.304C>T R102W AF014459 German, American, British 9618178, 9326935
c.305G>A R102Q AF014459 German, American, British 9618178
c.308T>G L103R AF014459 American 9618178
c.315-316insA frameshift AF014459 German 9618178, 9326935
c.325G>C G109R AF014459 French, German, American, British 9618178, 10234514, 9326935
c.326+1G>A splice donor site mutation? AF014459 American, British 9618178
c.326G>A G109E Japanese 10636421
c.327-329del C110del NM 000330 Australian 15932525
c.329G>A C110Y AF014459 American 9618178
c.33-36del frameshift AF014459 German, American 9618178
c.330T>A C110X Japanese 10636421
c.336G>C W112C AF014459 French 9618178
c.336G>T W112C AF014459 Italian 9618178, 16884758
c.337C>T L113F AF014459 American 9618178
c.350-351insT frameshift AF014459 French 9618178
c.354del1-ins18 duplicates the adjacent upstream intron-4-to-exon-5 junction and causes a premature termination codon downstream Unknown 19474399
c.35T>A L12H AF014459 American 9618178
c.366G>C W122C Italian 12928282
c.371-374delAGAT frameshift AF014459 American 10533068
c.375-378del frameshift AF014459 Icelandic 9618178
c.375-378delAGAT Icelandic 12967815
c.378A > G D126G Thai 20151283
c.380T>C L127P AF014459 American 9618178
c.38T>C L13P AF014459 American 10533068
c.392-393delAA frameshift AF014459 German 9618178
c.404G>T G135V AF014459 Dutch 9618178
c.407T>C I136T AF014459 American 9618178
c.410T>C L137P Spanish 19324861
c.412A>G T138A AF014459 Dutch 9618178
c.412_421del T138fsX145 Spanish 19324861
c.416delA frameshift AF014459 Dutch 9618178
c.418G>A G140R AF014459 American 9618178
c.419G>A G140E AF014459 British 9618178
c.421C>G R141G AF014459 British 9618178
c.421C>T R141C AF014459 French, English, German, Danish, American 9618178
c.422G>A R141H AF014459 German, American 9618178
c.424 C>T Buried residue located in the loop connecting b4 and b5 strands. The ASA change is DASA ¼ 41 A ° 2. The change could affect the RS1 thiol reactivity. Severe change suggests protein misfolding C142R Unknown 20061330
c.426T>G C142W AF014459 Saudi Arabian 10533068
c.428A>T D143V AF014459 Dutch 9618178
c.433G>C D145H AF014459 Chinese 17615541, 18369700
c.436G>A E146K AF014459 German 9618178
c.438G>C E146D AF014459 Dutch 9618178
c.460C>T Q154X AF014459 British 9618178
c.461A>G Q154R Spanish 19324861
c.464A>G Y155C AF014459 Italian 9618178
c.466G>A R156G AF014459 Chinese 17615541, 18369700
c.488delG frameshift AF014459 Chinese 17615541, 18369700
c.489G>T W163C AF014459 Swedish 10533068, 10922205
c.52+1G>A splice donor site mutation? AF014459 German, American 9618178
c.52+1G>T splice donor site mutation? AF014459 American 9618178
c.52+2insT splice donor site mutation? AF014459 American 9618178
c.52+5G>C splice donor site mutation? AF014459 American 9618178
c.520delC Chinese 17852193
c.522+1G>A Japanese 12920343
c.522+1G>T splice donor site mutation? AF014459 French 9618178
c.522+5G>A splice variant? AF014459 American 10533068
c.523-2A>G splice acceptor site mutation? AF014459 American 9618178
c.527T>C F176S NM 000330 Australian 15932525
c.53-78del frameshift AF014459 American 9618178
c.533G>A G178D AF014459 American 9618178
c.544C>T R182C AF014459 German, American 9618178
c.549-550ins2C frameshift AF014459 American 10533068
c.573delG P192fs NM 000330 Australian 15932525
c.574C>A P192T Japanese 12457918
c.574C>T P192S AF014459 English, German, Scottish, Indian, American 9618178, 17515881, 9326935
c.575C>G P192R AF014459 French 9618178
c.575C>T P192L Spanish 19324861
c.577C>T P193S Chinese 15281981
c.578C>T P193L AF014459 German, American, Austrian 9618178, 9326935
c.579-580insC frameshift AF014459 American, Austrian, British 9618178
c.581T>A I194N Spanish 19324861
c.583A>G I195V Indian 17515881
c.588-593insC Unknown 18982040
c.589C>A R197S Spanish 19324861
c.589C>T R197C AF014459 French, German, American, Dutch 9618178
c.590G>A R197H AF014459 American 9618178
c.590G>C R197P Japanese 10636421
c.596T>C I199T AF014459 American, British 9618178
c.598C>A R200S Spanish 19324861
c.598C>T R200C AF014459 French, American, British, Japanese, Dutch 10636421, 9618178
c.599G>A R200H AF014459 French, American, British 9618178
c.608C>T P203L AF014459 French, Greek, Indian, Portuguese, Dutch 10636740, 9618178, 17515881, 10234514, 16167295
c.617G>A W206X Indian 17515881
c.618G>A W206X AF014459 French 9618178
c.619C>G H207D Spanish 19324861
c.61G>T G21X NM 000330 Australian 15932525
c.621C>G H207Q AF014459 Scottish 9618178
c.625C>T R209C AF014459 Dutch 9618178
c.626G>A R209H AF014459 German, Dutch 9618178, 9326935
c.637C>T R213W AF014459 German, Indian, American, British 9618178, 17515881
c.639delG frameshift and elongiation of polypeptide Columbian 10415464
c.643G>C E215Q AF014459 Spanish 9618178
c.644A>T E215V Chinese, Spanish 17852193, 19324861
c.647T>C L216P AF014459 American 9618178
c.655-679del frameshift AF014459 German 9618178
c.655T>C C219R AF014459 German 9618178
c.655T>G C219G AF014459 British 9618178
c.655delT frameshift AF014459 Dutch 9618178
c.657C>G Buried residue C219 is located at the C-terminus. Intra-molecular disulfide bond C219-C63 is broken. W219 is stabilized by a new H-bond between N atom of W219 and O atom of V132. This could affect protein conformation C219W Unknown 20061330
c.667T>C C223R AF014459 American 10533068
c.668G>A Residue C223 is located at the C-terminus and together with C59 forms disulfide bond defining the stability of discoidin domain. Replacement of C223 with tyrosine breaks the S?S bond and decreases stability of the domain. Very severe change which could affect the protein conformation. C223Y Unknown 20061330
c.68C>A S23X AF014459 Danish 9618178
c.76G>T E26X AF014459 Danish 9618178
c.78+1G>C splice mutation AF014459 Hungarian 18728755
c.78G>C I133F Japanese 15944839
c.79-184del frameshift AF014459 Dutch 9618178
c.79-2A>G splice acceptor site mutation? AF014459 German, British 9618178
del136kb Danish 11013441
del473bp frameshift mutation and a premature termination at codon 78 Japanese 14986011
delEX1 frameshift AF014459 Danish, Chinese 11295123, 9618178
delEX2 Chinese 11295123
delEX3 Chinese 11295123