Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC24295;296;297 chr2:178804573;178804572;178804571chr2:179669300;179669299;179669298
N2AB24295;296;297 chr2:178804573;178804572;178804571chr2:179669300;179669299;179669298
N2A24295;296;297 chr2:178804573;178804572;178804571chr2:179669300;179669299;179669298
N2B24295;296;297 chr2:178804573;178804572;178804571chr2:179669300;179669299;179669298
Novex-124295;296;297 chr2:178804573;178804572;178804571chr2:179669300;179669299;179669298
Novex-224295;296;297 chr2:178804573;178804572;178804571chr2:179669300;179669299;179669298
Novex-324295;296;297 chr2:178804573;178804572;178804571chr2:179669300;179669299;179669298

Information

  • RefSeq wild type amino acid: T
  • RefSeq wild type transcript codon: ACC
  • RefSeq wild type template codon: TGG
  • Domain: Ig-1
  • Domain position: 19
  • Structural Position: 29
  • Q(SASA): 0.3229
  • Predicted PPI site: N

Reported SAVs

SNV RS
DUET
PolyPhen-2
Condel
Rhapsody
REVEL
MVP
Source
MAF
Disease
Zygosity
Site annotation
mCSM PPI
Predicted PPI site
Comments
AFR
AMR
AMS
ASJ
EAS
EUR
FIN
MDE
NFE
SAS
OTH
T/I rs536235994 0.134 1.0 N 0.793 0.477 0.582733548269 gnomAD-2.1.1 7.97E-06 None None None -0.166(TCAP) N None 0 0 None 0 0 None 3.27E-05 None 0 8.81E-06 0
T/I rs536235994 0.134 1.0 N 0.793 0.477 0.582733548269 gnomAD-3.1.2 6.57E-06 None None None -0.166(TCAP) N None 0 0 0 0 0 None 0 0 1.47E-05 0 0
T/I rs536235994 0.134 1.0 N 0.793 0.477 0.582733548269 gnomAD-4.0.0 4.33741E-06 None None None -0.166(TCAP) N None 0 0 None 0 0 None 0 0 5.08487E-06 1.09844E-05 0
T/N None -0.249 0.999 N 0.742 0.386 0.568214726415 gnomAD-2.1.1 1.59E-05 None None None -0.757(TCAP) N None 0 2.89E-05 None 0 5.45E-05 None 0 None 0 8.81E-06 1.63239E-04
T/N None -0.249 0.999 N 0.742 0.386 0.568214726415 gnomAD-3.1.2 1.31E-05 None None None -0.757(TCAP) N None 0 0 0 0 0 None 0 0 1.47E-05 2.07125E-04 0
T/N None -0.249 0.999 N 0.742 0.386 0.568214726415 gnomAD-4.0.0 1.05337E-05 None None None -0.757(TCAP) N None 0 1.66678E-05 None 0 0 None 0 1.64366E-04 1.01697E-05 2.19688E-05 1.60067E-05
T/P rs758953324 -0.384 0.999 D 0.791 0.448 0.599805095821 gnomAD-2.1.1 1.19E-05 None None None -0.15(TCAP) N None 0 0 None 0 0 None 6.54E-05 None 0 0 1.63292E-04
T/P rs758953324 -0.384 0.999 D 0.791 0.448 0.599805095821 gnomAD-4.0.0 6.15713E-06 None None None -0.15(TCAP) N None 0 0 None 0 0 None 0 0 0 1.04394E-04 0
T/S rs536235994 -0.632 0.993 N 0.597 0.25 0.389750110748 gnomAD-2.1.1 7.97E-06 None None None -0.641(TCAP) N None 0 5.79E-05 None 0 0 None 0 None 0 0 0
T/S rs536235994 -0.632 0.993 N 0.597 0.25 0.389750110748 gnomAD-4.0.0 1.16301E-05 None None None -0.641(TCAP) N None 5.97372E-05 8.94494E-05 None 0 0 None 0 0 9.8926E-06 0 0

Saturation Mutagenesis

SAV
AlphaMissense (IC)
AlphaMissense Class (IC)
AlphaMissense (N2AB)
AlphaMissense Class (N2AB)
mCSM
mCSM class
PolyPhen-2
PolyPhen-2 Class
Rhapsody
Rhapsody Class
Condel
Condel Score
Site annotation
mCSM PPI
Predicted PPI site
T/A 0.0917 likely_benign 0.0906 benign -0.875 Destabilizing 0.993 D 0.617 neutral N 0.457650797 None -0.135(TCAP) N
T/C 0.6948 likely_pathogenic 0.7021 pathogenic -0.539 Destabilizing 1.0 D 0.774 deleterious None None None -0.254(TCAP) N
T/D 0.4164 ambiguous 0.4171 ambiguous -0.012 Destabilizing 0.999 D 0.797 deleterious None None None -0.302(TCAP) N
T/E 0.3238 likely_benign 0.3235 benign 0.038 Stabilizing 1.0 D 0.795 deleterious None None None -0.371(TCAP) N
T/F 0.2999 likely_benign 0.3075 benign -0.872 Destabilizing 1.0 D 0.805 deleterious None None None -0.033(TCAP) N
T/G 0.3336 likely_benign 0.3364 benign -1.171 Destabilizing 1.0 D 0.744 deleterious None None None -0.134(TCAP) N
T/H 0.3254 likely_benign 0.3347 benign -1.26 Destabilizing 1.0 D 0.791 deleterious None None None 0.445(TCAP) N
T/I 0.1442 likely_benign 0.1455 benign -0.164 Destabilizing 1.0 D 0.793 deleterious N 0.453953636 None -0.166(TCAP) N
T/K 0.2789 likely_benign 0.2882 benign -0.561 Destabilizing 1.0 D 0.798 deleterious None None None -0.59(TCAP) N
T/L 0.1274 likely_benign 0.1264 benign -0.164 Destabilizing 1.0 D 0.684 prob.neutral None None None -0.166(TCAP) N
T/M 0.1155 likely_benign 0.1157 benign -0.096 Destabilizing 1.0 D 0.776 deleterious None None None 0.279(TCAP) N
T/N 0.1564 likely_benign 0.1488 benign -0.66 Destabilizing 0.999 D 0.742 deleterious N 0.444872161 None -0.757(TCAP) N
T/P 0.4755 ambiguous 0.4161 ambiguous -0.368 Destabilizing 0.999 D 0.791 deleterious D 0.606289352 None -0.15(TCAP) N
T/Q 0.2471 likely_benign 0.2525 benign -0.677 Destabilizing 1.0 D 0.805 deleterious None None None -0.601(TCAP) N
T/R 0.2105 likely_benign 0.2189 benign -0.415 Destabilizing 1.0 D 0.791 deleterious None None None -0.483(TCAP) N
T/S 0.1114 likely_benign 0.1101 benign -0.998 Destabilizing 0.993 D 0.597 neutral N 0.460072036 None -0.641(TCAP) N
T/V 0.1158 likely_benign 0.121 benign -0.368 Destabilizing 0.999 D 0.623 neutral None None None -0.15(TCAP) N
T/W 0.6887 likely_pathogenic 0.7134 pathogenic -0.844 Destabilizing 1.0 D 0.779 deleterious None None None 0.019(TCAP) N
T/Y 0.3933 ambiguous 0.4027 ambiguous -0.577 Destabilizing 1.0 D 0.801 deleterious None None None 0.137(TCAP) N

Titin has multiple isoforms, the longest being the theoretical IC (inferred complete) isoform which contains all 363 in-frame titin exons. Here all isoform positions have been mapped onto the IC sequence, with an exception being the C-terminal of the much shorter novex-3 isoform. This contains the out of frame exon 48 which cannot be mapped to the other isoforms.