Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16860 | 50803;50804;50805 | chr2:178611651;178611650;178611649 | chr2:179476378;179476377;179476376 |
| N2AB | 15219 | 45880;45881;45882 | chr2:178611651;178611650;178611649 | chr2:179476378;179476377;179476376 |
| N2A | 14292 | 43099;43100;43101 | chr2:178611651;178611650;178611649 | chr2:179476378;179476377;179476376 |
| N2B | 7795 | 23608;23609;23610 | chr2:178611651;178611650;178611649 | chr2:179476378;179476377;179476376 |
| Novex-1 | 7920 | 23983;23984;23985 | chr2:178611651;178611650;178611649 | chr2:179476378;179476377;179476376 |
| Novex-2 | 7987 | 24184;24185;24186 | chr2:178611651;178611650;178611649 | chr2:179476378;179476377;179476376 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| H/N | None | None | 0.999 | N | 0.531 | 0.324 | 0.330069100803 | 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 |
| H/R | rs2154199864  |
None | 1.0 | N | 0.667 | 0.312 | 0.301455362545 | gnomAD-4.0.0 | 4.77897E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.7818E-05 | None | 0 | 0 | 5.72249E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| H/A | 0.599 | likely_pathogenic | 0.5128 | ambiguous | -0.291 | Destabilizing | 0.999 | D | 0.664 | neutral | None | None | None | None | N |
| H/C | 0.3425 | ambiguous | 0.2859 | benign | 0.405 | Stabilizing | 1.0 | D | 0.792 | deleterious | None | None | None | None | N |
| H/D | 0.6996 | likely_pathogenic | 0.5571 | ambiguous | -0.139 | Destabilizing | 1.0 | D | 0.749 | deleterious | N | 0.468061998 | None | None | N |
| H/E | 0.5835 | likely_pathogenic | 0.4743 | ambiguous | -0.074 | Destabilizing | 0.999 | D | 0.55 | neutral | None | None | None | None | N |
| H/F | 0.5137 | ambiguous | 0.4871 | ambiguous | 0.642 | Stabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | N |
| H/G | 0.7301 | likely_pathogenic | 0.6482 | pathogenic | -0.63 | Destabilizing | 0.999 | D | 0.69 | prob.neutral | None | None | None | None | N |
| H/I | 0.5384 | ambiguous | 0.4573 | ambiguous | 0.61 | Stabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| H/K | 0.3386 | likely_benign | 0.2985 | benign | -0.264 | Destabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | N |
| H/L | 0.291 | likely_benign | 0.2205 | benign | 0.61 | Stabilizing | 1.0 | D | 0.762 | deleterious | N | 0.483046877 | None | None | N |
| H/M | 0.677 | likely_pathogenic | 0.6198 | pathogenic | 0.457 | Stabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | N |
| H/N | 0.2906 | likely_benign | 0.2234 | benign | -0.243 | Destabilizing | 0.999 | D | 0.531 | neutral | N | 0.474279092 | None | None | N |
| H/P | 0.8806 | likely_pathogenic | 0.8225 | pathogenic | 0.334 | Stabilizing | 1.0 | D | 0.784 | deleterious | N | 0.475913197 | None | None | N |
| H/Q | 0.3138 | likely_benign | 0.2489 | benign | -0.057 | Destabilizing | 1.0 | D | 0.667 | neutral | N | 0.446839926 | None | None | N |
| H/R | 0.1728 | likely_benign | 0.1342 | benign | -0.825 | Destabilizing | 1.0 | D | 0.667 | neutral | N | 0.439234398 | None | None | N |
| H/S | 0.5123 | ambiguous | 0.4211 | ambiguous | -0.231 | Destabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | N |
| H/T | 0.4946 | ambiguous | 0.4087 | ambiguous | -0.066 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | N |
| H/V | 0.4524 | ambiguous | 0.3753 | ambiguous | 0.334 | Stabilizing | 1.0 | D | 0.796 | deleterious | None | None | None | None | N |
| H/W | 0.7058 | likely_pathogenic | 0.629 | pathogenic | 0.802 | Stabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| H/Y | 0.2542 | likely_benign | 0.2039 | benign | 1.003 | Stabilizing | 0.999 | D | 0.549 | neutral | N | 0.482082755 | 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.