Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31032 | 93319;93320;93321 | chr2:178548532;178548531;178548530 | chr2:179413259;179413258;179413257 |
| N2AB | 29391 | 88396;88397;88398 | chr2:178548532;178548531;178548530 | chr2:179413259;179413258;179413257 |
| N2A | 28464 | 85615;85616;85617 | chr2:178548532;178548531;178548530 | chr2:179413259;179413258;179413257 |
| N2B | 21967 | 66124;66125;66126 | chr2:178548532;178548531;178548530 | chr2:179413259;179413258;179413257 |
| Novex-1 | 22092 | 66499;66500;66501 | chr2:178548532;178548531;178548530 | chr2:179413259;179413258;179413257 |
| Novex-2 | 22159 | 66700;66701;66702 | chr2:178548532;178548531;178548530 | chr2:179413259;179413258;179413257 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/C | None | None | 1.0 | N | 0.743 | 0.487 | 0.526892676112 | 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 |
| S/F | rs1698112765  |
None | 0.998 | N | 0.781 | 0.503 | 0.525922550829 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/F | rs1698112765 |
None | 0.998 | N | 0.781 | 0.503 | 0.525922550829 | gnomAD-4.0.0 | 6.57125E-06 | None | None | None | None | N | None | 2.41243E-05 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.0942 | likely_benign | 0.0924 | benign | -0.645 | Destabilizing | 0.122 | N | 0.223 | neutral | N | 0.502308419 | None | None | N |
| S/C | 0.0869 | likely_benign | 0.0939 | benign | -0.714 | Destabilizing | 1.0 | D | 0.743 | deleterious | N | 0.49857589 | None | None | N |
| S/D | 0.6868 | likely_pathogenic | 0.6558 | pathogenic | -1.081 | Destabilizing | 0.985 | D | 0.591 | neutral | None | None | None | None | N |
| S/E | 0.6795 | likely_pathogenic | 0.6381 | pathogenic | -1.09 | Destabilizing | 0.985 | D | 0.568 | neutral | None | None | None | None | N |
| S/F | 0.1464 | likely_benign | 0.147 | benign | -1.028 | Destabilizing | 0.998 | D | 0.781 | deleterious | N | 0.515439151 | None | None | N |
| S/G | 0.1252 | likely_benign | 0.1285 | benign | -0.845 | Destabilizing | 0.871 | D | 0.533 | neutral | None | None | None | None | N |
| S/H | 0.3358 | likely_benign | 0.3452 | ambiguous | -1.373 | Destabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | N |
| S/I | 0.2306 | likely_benign | 0.2265 | benign | -0.22 | Destabilizing | 0.996 | D | 0.767 | deleterious | None | None | None | None | N |
| S/K | 0.7769 | likely_pathogenic | 0.77 | pathogenic | -0.704 | Destabilizing | 0.97 | D | 0.569 | neutral | None | None | None | None | N |
| S/L | 0.1135 | likely_benign | 0.1109 | benign | -0.22 | Destabilizing | 0.97 | D | 0.677 | prob.neutral | None | None | None | None | N |
| S/M | 0.1606 | likely_benign | 0.1638 | benign | 0.125 | Stabilizing | 1.0 | D | 0.749 | deleterious | None | None | None | None | N |
| S/N | 0.1959 | likely_benign | 0.2023 | benign | -0.803 | Destabilizing | 0.995 | D | 0.582 | neutral | None | None | None | None | N |
| S/P | 0.9505 | likely_pathogenic | 0.9449 | pathogenic | -0.331 | Destabilizing | 0.994 | D | 0.773 | deleterious | D | 0.556420601 | None | None | N |
| S/Q | 0.5123 | ambiguous | 0.5096 | ambiguous | -1.1 | Destabilizing | 0.999 | D | 0.649 | neutral | None | None | None | None | N |
| S/R | 0.713 | likely_pathogenic | 0.7106 | pathogenic | -0.489 | Destabilizing | 0.996 | D | 0.775 | deleterious | None | None | None | None | N |
| S/T | 0.083 | likely_benign | 0.089 | benign | -0.737 | Destabilizing | 0.91 | D | 0.575 | neutral | N | 0.509096888 | None | None | N |
| S/V | 0.2119 | likely_benign | 0.2131 | benign | -0.331 | Destabilizing | 0.97 | D | 0.695 | prob.neutral | None | None | None | None | N |
| S/W | 0.3603 | ambiguous | 0.3554 | ambiguous | -1.029 | Destabilizing | 1.0 | D | 0.778 | deleterious | None | None | None | None | N |
| S/Y | 0.179 | likely_benign | 0.1712 | benign | -0.712 | Destabilizing | 0.998 | D | 0.779 | deleterious | N | 0.492864671 | 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.