Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26868 | 80827;80828;80829 | chr2:178565530;178565529;178565528 | chr2:179430257;179430256;179430255 |
| N2AB | 25227 | 75904;75905;75906 | chr2:178565530;178565529;178565528 | chr2:179430257;179430256;179430255 |
| N2A | 24300 | 73123;73124;73125 | chr2:178565530;178565529;178565528 | chr2:179430257;179430256;179430255 |
| N2B | 17803 | 53632;53633;53634 | chr2:178565530;178565529;178565528 | chr2:179430257;179430256;179430255 |
| Novex-1 | 17928 | 54007;54008;54009 | chr2:178565530;178565529;178565528 | chr2:179430257;179430256;179430255 |
| Novex-2 | 17995 | 54208;54209;54210 | chr2:178565530;178565529;178565528 | chr2:179430257;179430256;179430255 |
| 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/A | None | None | 0.025 | N | 0.184 | 0.215 | 0.149567049428 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| G/D | None | None | 0.993 | N | 0.625 | 0.276 | 0.304108284078 | gnomAD-4.0.0 | 2.40064E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.625E-06 | 0 | 0 |
| G/S | None | None | 0.908 | N | 0.375 | 0.229 | 0.203808441222 | gnomAD-4.0.0 | 3.42159E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99593E-07 | 4.6379E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.1474 | likely_benign | 0.1148 | benign | -0.425 | Destabilizing | 0.025 | N | 0.184 | neutral | N | 0.399814552 | None | None | I |
| G/C | 0.456 | ambiguous | 0.3933 | ambiguous | -1.114 | Destabilizing | 0.998 | D | 0.642 | neutral | N | 0.480875711 | None | None | I |
| G/D | 0.6383 | likely_pathogenic | 0.5146 | ambiguous | -0.843 | Destabilizing | 0.993 | D | 0.625 | neutral | N | 0.451918241 | None | None | I |
| G/E | 0.6603 | likely_pathogenic | 0.5157 | ambiguous | -0.974 | Destabilizing | 0.989 | D | 0.599 | neutral | None | None | None | None | I |
| G/F | 0.843 | likely_pathogenic | 0.781 | pathogenic | -1.076 | Destabilizing | 0.995 | D | 0.646 | neutral | None | None | None | None | I |
| G/H | 0.7625 | likely_pathogenic | 0.6834 | pathogenic | -0.386 | Destabilizing | 1.0 | D | 0.601 | neutral | None | None | None | None | I |
| G/I | 0.581 | likely_pathogenic | 0.4693 | ambiguous | -0.609 | Destabilizing | 0.989 | D | 0.627 | neutral | None | None | None | None | I |
| G/K | 0.8693 | likely_pathogenic | 0.8027 | pathogenic | -0.925 | Destabilizing | 0.989 | D | 0.605 | neutral | None | None | None | None | I |
| G/L | 0.6279 | likely_pathogenic | 0.519 | ambiguous | -0.609 | Destabilizing | 0.989 | D | 0.597 | neutral | None | None | None | None | I |
| G/M | 0.6782 | likely_pathogenic | 0.5847 | pathogenic | -0.911 | Destabilizing | 1.0 | D | 0.64 | neutral | None | None | None | None | I |
| G/N | 0.563 | ambiguous | 0.4651 | ambiguous | -0.683 | Destabilizing | 0.995 | D | 0.589 | neutral | None | None | None | None | I |
| G/P | 0.7281 | likely_pathogenic | 0.6636 | pathogenic | -0.523 | Destabilizing | 0.995 | D | 0.596 | neutral | None | None | None | None | I |
| G/Q | 0.7092 | likely_pathogenic | 0.6243 | pathogenic | -0.919 | Destabilizing | 0.995 | D | 0.635 | neutral | None | None | None | None | I |
| G/R | 0.7513 | likely_pathogenic | 0.6389 | pathogenic | -0.475 | Destabilizing | 0.993 | D | 0.572 | neutral | D | 0.522932977 | None | None | I |
| G/S | 0.1565 | likely_benign | 0.1237 | benign | -0.811 | Destabilizing | 0.908 | D | 0.375 | neutral | N | 0.336555295 | None | None | I |
| G/T | 0.295 | likely_benign | 0.2283 | benign | -0.88 | Destabilizing | 0.989 | D | 0.485 | neutral | None | None | None | None | I |
| G/V | 0.4097 | ambiguous | 0.308 | benign | -0.523 | Destabilizing | 0.972 | D | 0.613 | neutral | N | 0.479835561 | None | None | I |
| G/W | 0.73 | likely_pathogenic | 0.6491 | pathogenic | -1.176 | Destabilizing | 1.0 | D | 0.59 | neutral | None | None | None | None | I |
| G/Y | 0.7658 | likely_pathogenic | 0.6798 | pathogenic | -0.892 | Destabilizing | 1.0 | D | 0.647 | neutral | None | None | None | None | I |
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.