Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC2197866157;66158;66159 chr2:178582524;178582523;178582522chr2:179447251;179447250;179447249
N2AB2033761234;61235;61236 chr2:178582524;178582523;178582522chr2:179447251;179447250;179447249
N2A1941058453;58454;58455 chr2:178582524;178582523;178582522chr2:179447251;179447250;179447249
N2B1291338962;38963;38964 chr2:178582524;178582523;178582522chr2:179447251;179447250;179447249
Novex-11303839337;39338;39339 chr2:178582524;178582523;178582522chr2:179447251;179447250;179447249
Novex-21310539538;39539;39540 chr2:178582524;178582523;178582522chr2:179447251;179447250;179447249
Novex-3NoneNone chr2:Nonechr2:None

Information

  • RefSeq wild type amino acid: E
  • RefSeq wild type transcript codon: GAA
  • RefSeq wild type template codon: CTT
  • Domain: Fn3-47
  • Domain position: 23
  • Structural Position: 25
  • Q(SASA): 0.4498
  • 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
E/K None None 0.014 N 0.277 0.262 0.180583059064 gnomAD-4.0.0 1.20032E-06 None None None None N None 0 0 None 0 0 None 0 0 1.3125E-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
E/A 0.1901 likely_benign 0.1764 benign -0.697 Destabilizing 0.698 D 0.581 neutral N 0.507592591 None None N
E/C 0.8575 likely_pathogenic 0.8174 pathogenic -0.152 Destabilizing 0.998 D 0.782 deleterious None None None None N
E/D 0.1411 likely_benign 0.1278 benign -0.713 Destabilizing 0.006 N 0.119 neutral N 0.49972247 None None N
E/F 0.7805 likely_pathogenic 0.7413 pathogenic -0.549 Destabilizing 0.993 D 0.757 deleterious None None None None N
E/G 0.2391 likely_benign 0.2163 benign -0.968 Destabilizing 0.822 D 0.611 neutral D 0.522831403 None None N
E/H 0.5614 ambiguous 0.4994 ambiguous -0.691 Destabilizing 0.978 D 0.585 neutral None None None None N
E/I 0.3728 ambiguous 0.3622 ambiguous 0.011 Stabilizing 0.978 D 0.759 deleterious None None None None N
E/K 0.257 likely_benign 0.2246 benign -0.201 Destabilizing 0.014 N 0.277 neutral N 0.428379659 None None N
E/L 0.3485 ambiguous 0.3198 benign 0.011 Stabilizing 0.956 D 0.681 prob.neutral None None None None N
E/M 0.429 ambiguous 0.4069 ambiguous 0.393 Stabilizing 0.998 D 0.741 deleterious None None None None N
E/N 0.2401 likely_benign 0.2112 benign -0.476 Destabilizing 0.754 D 0.538 neutral None None None None N
E/P 0.9576 likely_pathogenic 0.9203 pathogenic -0.204 Destabilizing 0.978 D 0.695 prob.neutral None None None None N
E/Q 0.1553 likely_benign 0.1444 benign -0.421 Destabilizing 0.822 D 0.551 neutral N 0.512921053 None None N
E/R 0.4409 ambiguous 0.3856 ambiguous -0.016 Destabilizing 0.915 D 0.565 neutral None None None None N
E/S 0.2215 likely_benign 0.2046 benign -0.715 Destabilizing 0.193 N 0.274 neutral None None None None N
E/T 0.2353 likely_benign 0.2255 benign -0.502 Destabilizing 0.754 D 0.629 neutral None None None None N
E/V 0.2393 likely_benign 0.2262 benign -0.204 Destabilizing 0.942 D 0.7 prob.neutral N 0.470131471 None None N
E/W 0.9446 likely_pathogenic 0.926 pathogenic -0.387 Destabilizing 0.998 D 0.778 deleterious None None None None N
E/Y 0.6845 likely_pathogenic 0.6253 pathogenic -0.319 Destabilizing 0.993 D 0.757 deleterious None None None None 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.