Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24813 | 74662;74663;74664 | chr2:178571695;178571694;178571693 | chr2:179436422;179436421;179436420 |
| N2AB | 23172 | 69739;69740;69741 | chr2:178571695;178571694;178571693 | chr2:179436422;179436421;179436420 |
| N2A | 22245 | 66958;66959;66960 | chr2:178571695;178571694;178571693 | chr2:179436422;179436421;179436420 |
| N2B | 15748 | 47467;47468;47469 | chr2:178571695;178571694;178571693 | chr2:179436422;179436421;179436420 |
| Novex-1 | 15873 | 47842;47843;47844 | chr2:178571695;178571694;178571693 | chr2:179436422;179436421;179436420 |
| Novex-2 | 15940 | 48043;48044;48045 | chr2:178571695;178571694;178571693 | chr2:179436422;179436421;179436420 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | rs750126076  |
-0.695 | 0.004 | N | 0.29 | 0.087 | 0.14312445 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| T/A | rs750126076 |
-0.695 | 0.004 | N | 0.29 | 0.087 | 0.14312445 | gnomAD-4.0.0 | 3.42161E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.8735E-05 | 0 | 0 | 4.63779E-05 | 0 |
| T/I | None | None | 0.81 | N | 0.63 | 0.167 | 0.24896431 | 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 |
| T/N | rs1559405404 |
None | 0.549 | N | 0.563 | 0.124 | 0.20549828 | 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 |
| T/P | rs750126076 |
-0.16 | 0.896 | N | 0.629 | 0.233 | 0.26361227 | gnomAD-2.1.1 | 8.07E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.79E-05 | 0 |
| T/P | rs750126076 |
-0.16 | 0.896 | N | 0.629 | 0.233 | 0.26361227 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 9.41E-05 | 0 | 0 | 0 | 0 |
| T/P | rs750126076 |
-0.16 | 0.896 | N | 0.629 | 0.233 | 0.26361227 | gnomAD-4.0.0 | 9.91699E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.56245E-05 | 0 | 1.27161E-05 | 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 | 0.0815 | likely_benign | 0.0761 | benign | -0.648 | Destabilizing | 0.004 | N | 0.29 | neutral | N | 0.46034485 | None | None | N |
| T/C | 0.3074 | likely_benign | 0.2796 | benign | -0.395 | Destabilizing | 0.977 | D | 0.638 | neutral | None | None | None | None | N |
| T/D | 0.3097 | likely_benign | 0.2954 | benign | -0.114 | Destabilizing | 0.85 | D | 0.614 | neutral | None | None | None | None | N |
| T/E | 0.1879 | likely_benign | 0.1783 | benign | -0.096 | Destabilizing | 0.617 | D | 0.579 | neutral | None | None | None | None | N |
| T/F | 0.2618 | likely_benign | 0.2446 | benign | -0.627 | Destabilizing | 0.92 | D | 0.703 | prob.neutral | None | None | None | None | N |
| T/G | 0.2133 | likely_benign | 0.1783 | benign | -0.928 | Destabilizing | 0.447 | N | 0.586 | neutral | None | None | None | None | N |
| T/H | 0.3068 | likely_benign | 0.2941 | benign | -1.204 | Destabilizing | 0.977 | D | 0.726 | prob.delet. | None | None | None | None | N |
| T/I | 0.1194 | likely_benign | 0.1153 | benign | 0.011 | Stabilizing | 0.81 | D | 0.63 | neutral | N | 0.50525045 | None | None | N |
| T/K | 0.204 | likely_benign | 0.2051 | benign | -0.743 | Destabilizing | 0.447 | N | 0.546 | neutral | None | None | None | None | N |
| T/L | 0.092 | likely_benign | 0.0888 | benign | 0.011 | Stabilizing | 0.447 | N | 0.543 | neutral | None | None | None | None | N |
| T/M | 0.0904 | likely_benign | 0.0873 | benign | 0.122 | Stabilizing | 0.992 | D | 0.631 | neutral | None | None | None | None | N |
| T/N | 0.1383 | likely_benign | 0.1336 | benign | -0.668 | Destabilizing | 0.549 | D | 0.563 | neutral | N | 0.4579206 | None | None | N |
| T/P | 0.4454 | ambiguous | 0.433 | ambiguous | -0.175 | Destabilizing | 0.896 | D | 0.629 | neutral | N | 0.43348634 | None | None | N |
| T/Q | 0.2011 | likely_benign | 0.1981 | benign | -0.731 | Destabilizing | 0.85 | D | 0.631 | neutral | None | None | None | None | N |
| T/R | 0.1791 | likely_benign | 0.1756 | benign | -0.599 | Destabilizing | 0.005 | N | 0.345 | neutral | None | None | None | None | N |
| T/S | 0.1027 | likely_benign | 0.0967 | benign | -0.917 | Destabilizing | 0.016 | N | 0.428 | neutral | N | 0.43213955 | None | None | N |
| T/V | 0.0903 | likely_benign | 0.0852 | benign | -0.175 | Destabilizing | 0.447 | N | 0.536 | neutral | None | None | None | None | N |
| T/W | 0.645 | likely_pathogenic | 0.6173 | pathogenic | -0.636 | Destabilizing | 0.992 | D | 0.777 | deleterious | None | None | None | None | N |
| T/Y | 0.326 | likely_benign | 0.3169 | benign | -0.393 | Destabilizing | 0.972 | D | 0.708 | prob.delet. | 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.