Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32830 | 98713;98714;98715 | chr2:178539577;178539576;178539575 | chr2:179404304;179404303;179404302 |
| N2AB | 31189 | 93790;93791;93792 | chr2:178539577;178539576;178539575 | chr2:179404304;179404303;179404302 |
| N2A | 30262 | 91009;91010;91011 | chr2:178539577;178539576;178539575 | chr2:179404304;179404303;179404302 |
| N2B | 23765 | 71518;71519;71520 | chr2:178539577;178539576;178539575 | chr2:179404304;179404303;179404302 |
| Novex-1 | 23890 | 71893;71894;71895 | chr2:178539577;178539576;178539575 | chr2:179404304;179404303;179404302 |
| Novex-2 | 23957 | 72094;72095;72096 | chr2:178539577;178539576;178539575 | chr2:179404304;179404303;179404302 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/D | rs748981337  |
-1.828 | 1.0 | N | 0.855 | 0.464 | 0.412587454835 | gnomAD-2.1.1 | 1.61E-05 | None | None | None | None | N | None | 0 | 1.15875E-04 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/D | rs748981337 |
-1.828 | 1.0 | N | 0.855 | 0.464 | 0.412587454835 | gnomAD-4.0.0 | 7.95558E-06 | None | None | None | None | N | None | 0 | 1.14317E-04 | None | 0 | 0 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.473 | ambiguous | 0.432 | ambiguous | -0.61 | Destabilizing | 1.0 | D | 0.584 | neutral | N | 0.464471661 | None | None | N |
| G/C | 0.639 | likely_pathogenic | 0.569 | pathogenic | -0.755 | Destabilizing | 1.0 | D | 0.822 | deleterious | N | 0.462789821 | None | None | N |
| G/D | 0.9133 | likely_pathogenic | 0.8744 | pathogenic | -1.231 | Destabilizing | 1.0 | D | 0.855 | deleterious | N | 0.46734527 | None | None | N |
| G/E | 0.9318 | likely_pathogenic | 0.9021 | pathogenic | -1.179 | Destabilizing | 1.0 | D | 0.915 | deleterious | None | None | None | None | N |
| G/F | 0.9674 | likely_pathogenic | 0.9583 | pathogenic | -0.626 | Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | N |
| G/H | 0.9126 | likely_pathogenic | 0.8764 | pathogenic | -1.437 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| G/I | 0.9703 | likely_pathogenic | 0.9594 | pathogenic | 0.106 | Stabilizing | 1.0 | D | 0.882 | deleterious | None | None | None | None | N |
| G/K | 0.9811 | likely_pathogenic | 0.9723 | pathogenic | -0.994 | Destabilizing | 1.0 | D | 0.916 | deleterious | None | None | None | None | N |
| G/L | 0.9602 | likely_pathogenic | 0.9482 | pathogenic | 0.106 | Stabilizing | 1.0 | D | 0.91 | deleterious | None | None | None | None | N |
| G/M | 0.9777 | likely_pathogenic | 0.971 | pathogenic | -0.066 | Destabilizing | 1.0 | D | 0.83 | deleterious | None | None | None | None | N |
| G/N | 0.8343 | likely_pathogenic | 0.7858 | pathogenic | -0.869 | Destabilizing | 1.0 | D | 0.724 | prob.delet. | None | None | None | None | N |
| G/P | 0.9983 | likely_pathogenic | 0.9976 | pathogenic | -0.089 | Destabilizing | 1.0 | D | 0.908 | deleterious | None | None | None | None | N |
| G/Q | 0.9335 | likely_pathogenic | 0.909 | pathogenic | -0.876 | Destabilizing | 1.0 | D | 0.901 | deleterious | None | None | None | None | N |
| G/R | 0.9276 | likely_pathogenic | 0.8999 | pathogenic | -0.955 | Destabilizing | 1.0 | D | 0.91 | deleterious | N | 0.51083518 | None | None | N |
| G/S | 0.3658 | ambiguous | 0.3199 | benign | -1.21 | Destabilizing | 1.0 | D | 0.661 | neutral | N | 0.500194111 | None | None | N |
| G/T | 0.8084 | likely_pathogenic | 0.755 | pathogenic | -1.064 | Destabilizing | 1.0 | D | 0.915 | deleterious | None | None | None | None | N |
| G/V | 0.9253 | likely_pathogenic | 0.9001 | pathogenic | -0.089 | Destabilizing | 1.0 | D | 0.913 | deleterious | N | 0.512316419 | None | None | N |
| G/W | 0.9148 | likely_pathogenic | 0.8851 | pathogenic | -1.209 | Destabilizing | 1.0 | D | 0.818 | deleterious | None | None | None | None | N |
| G/Y | 0.9276 | likely_pathogenic | 0.8965 | pathogenic | -0.677 | Destabilizing | 1.0 | D | 0.873 | 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.