Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3072 | 9439;9440;9441 | chr2:178768105;178768104;178768103 | chr2:179632832;179632831;179632830 |
| N2AB | 3072 | 9439;9440;9441 | chr2:178768105;178768104;178768103 | chr2:179632832;179632831;179632830 |
| N2A | 3072 | 9439;9440;9441 | chr2:178768105;178768104;178768103 | chr2:179632832;179632831;179632830 |
| N2B | 3026 | 9301;9302;9303 | chr2:178768105;178768104;178768103 | chr2:179632832;179632831;179632830 |
| Novex-1 | 3026 | 9301;9302;9303 | chr2:178768105;178768104;178768103 | chr2:179632832;179632831;179632830 |
| Novex-2 | 3026 | 9301;9302;9303 | chr2:178768105;178768104;178768103 | chr2:179632832;179632831;179632830 |
| Novex-3 | 3072 | 9439;9440;9441 | chr2:178768105;178768104;178768103 | chr2:179632832;179632831;179632830 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/E | rs752455147  |
0.354 | 0.996 | N | 0.659 | 0.399 | 0.436239592564 | gnomAD-2.1.1 | 1.2E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 6.53E-05 | None | 0 | 8.82E-06 | 0 |
| K/E | rs752455147 |
0.354 | 0.996 | N | 0.659 | 0.399 | 0.436239592564 | gnomAD-4.0.0 | 7.95312E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85649E-06 | 5.73082E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/A | 0.946 | likely_pathogenic | 0.9507 | pathogenic | -0.033 | Destabilizing | 0.998 | D | 0.665 | neutral | None | None | None | None | N |
| K/C | 0.9702 | likely_pathogenic | 0.9765 | pathogenic | -0.207 | Destabilizing | 1.0 | D | 0.703 | prob.neutral | None | None | None | None | N |
| K/D | 0.9397 | likely_pathogenic | 0.9438 | pathogenic | 0.054 | Stabilizing | 1.0 | D | 0.691 | prob.neutral | None | None | None | None | N |
| K/E | 0.8246 | likely_pathogenic | 0.8325 | pathogenic | 0.066 | Stabilizing | 0.996 | D | 0.659 | neutral | N | 0.503905115 | None | None | N |
| K/F | 0.9819 | likely_pathogenic | 0.9881 | pathogenic | -0.193 | Destabilizing | 1.0 | D | 0.705 | prob.neutral | None | None | None | None | N |
| K/G | 0.6885 | likely_pathogenic | 0.6908 | pathogenic | -0.253 | Destabilizing | 1.0 | D | 0.667 | neutral | None | None | None | None | N |
| K/H | 0.7287 | likely_pathogenic | 0.776 | pathogenic | -0.534 | Destabilizing | 1.0 | D | 0.719 | prob.delet. | None | None | None | None | N |
| K/I | 0.9778 | likely_pathogenic | 0.9815 | pathogenic | 0.472 | Stabilizing | 1.0 | D | 0.694 | prob.neutral | None | None | None | None | N |
| K/L | 0.9069 | likely_pathogenic | 0.9235 | pathogenic | 0.472 | Stabilizing | 1.0 | D | 0.667 | neutral | None | None | None | None | N |
| K/M | 0.8218 | likely_pathogenic | 0.8433 | pathogenic | 0.319 | Stabilizing | 1.0 | D | 0.717 | prob.delet. | D | 0.662836419 | None | None | N |
| K/N | 0.8275 | likely_pathogenic | 0.838 | pathogenic | 0.187 | Stabilizing | 0.999 | D | 0.696 | prob.neutral | N | 0.507062574 | None | None | N |
| K/P | 0.9908 | likely_pathogenic | 0.9921 | pathogenic | 0.333 | Stabilizing | 1.0 | D | 0.694 | prob.neutral | None | None | None | None | N |
| K/Q | 0.518 | ambiguous | 0.5647 | pathogenic | -0.012 | Destabilizing | 0.999 | D | 0.708 | prob.delet. | D | 0.597662335 | None | None | N |
| K/R | 0.1482 | likely_benign | 0.1711 | benign | -0.047 | Destabilizing | 0.64 | D | 0.441 | neutral | N | 0.503019815 | None | None | N |
| K/S | 0.9339 | likely_pathogenic | 0.9378 | pathogenic | -0.336 | Destabilizing | 0.998 | D | 0.669 | neutral | None | None | None | None | N |
| K/T | 0.8877 | likely_pathogenic | 0.8906 | pathogenic | -0.17 | Destabilizing | 0.999 | D | 0.683 | prob.neutral | D | 0.557744417 | None | None | N |
| K/V | 0.9657 | likely_pathogenic | 0.9708 | pathogenic | 0.333 | Stabilizing | 1.0 | D | 0.663 | neutral | None | None | None | None | N |
| K/W | 0.9685 | likely_pathogenic | 0.9791 | pathogenic | -0.171 | Destabilizing | 1.0 | D | 0.703 | prob.neutral | None | None | None | None | N |
| K/Y | 0.9353 | likely_pathogenic | 0.9503 | pathogenic | 0.175 | Stabilizing | 1.0 | D | 0.698 | prob.neutral | 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.