Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20874 | 62845;62846;62847 | chr2:178589105;178589104;178589103 | chr2:179453832;179453831;179453830 |
| N2AB | 19233 | 57922;57923;57924 | chr2:178589105;178589104;178589103 | chr2:179453832;179453831;179453830 |
| N2A | 18306 | 55141;55142;55143 | chr2:178589105;178589104;178589103 | chr2:179453832;179453831;179453830 |
| N2B | 11809 | 35650;35651;35652 | chr2:178589105;178589104;178589103 | chr2:179453832;179453831;179453830 |
| Novex-1 | 11934 | 36025;36026;36027 | chr2:178589105;178589104;178589103 | chr2:179453832;179453831;179453830 |
| Novex-2 | 12001 | 36226;36227;36228 | chr2:178589105;178589104;178589103 | chr2:179453832;179453831;179453830 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | None | None | None | N | 0.04 | 0.117 | 0.266385636622 | gnomAD-4.0.0 | 1.59737E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.8594E-06 | 0 | 0 |
| V/F | None | None | None | N | 0.162 | 0.218 | 0.243972157842 | 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 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.0652 | likely_benign | 0.0662 | benign | -0.888 | Destabilizing | None | N | 0.04 | neutral | N | 0.458374492 | None | None | N |
| V/C | 0.3713 | ambiguous | 0.3848 | ambiguous | -0.59 | Destabilizing | 0.245 | N | 0.31 | neutral | None | None | None | None | N |
| V/D | 0.1612 | likely_benign | 0.1877 | benign | -0.802 | Destabilizing | 0.014 | N | 0.354 | neutral | N | 0.434766914 | None | None | N |
| V/E | 0.1414 | likely_benign | 0.1634 | benign | -0.902 | Destabilizing | 0.009 | N | 0.318 | neutral | None | None | None | None | N |
| V/F | 0.1182 | likely_benign | 0.1266 | benign | -0.987 | Destabilizing | None | N | 0.162 | neutral | N | 0.499183752 | None | None | N |
| V/G | 0.0841 | likely_benign | 0.0796 | benign | -1.078 | Destabilizing | None | N | 0.196 | neutral | N | 0.466244614 | None | None | N |
| V/H | 0.2505 | likely_benign | 0.2662 | benign | -0.651 | Destabilizing | 0.245 | N | 0.401 | neutral | None | None | None | None | N |
| V/I | 0.0702 | likely_benign | 0.0706 | benign | -0.519 | Destabilizing | 0.007 | N | 0.261 | neutral | N | 0.413314206 | None | None | N |
| V/K | 0.1323 | likely_benign | 0.1454 | benign | -0.798 | Destabilizing | 0.009 | N | 0.319 | neutral | None | None | None | None | N |
| V/L | 0.0967 | likely_benign | 0.1029 | benign | -0.519 | Destabilizing | 0.001 | N | 0.181 | neutral | N | 0.434766914 | None | None | N |
| V/M | 0.0826 | likely_benign | 0.0854 | benign | -0.32 | Destabilizing | 0.245 | N | 0.317 | neutral | None | None | None | None | N |
| V/N | 0.1004 | likely_benign | 0.1038 | benign | -0.443 | Destabilizing | 0.009 | N | 0.333 | neutral | None | None | None | None | N |
| V/P | 0.5001 | ambiguous | 0.5369 | ambiguous | -0.606 | Destabilizing | 0.018 | N | 0.399 | neutral | None | None | None | None | N |
| V/Q | 0.1378 | likely_benign | 0.1479 | benign | -0.724 | Destabilizing | 0.044 | N | 0.451 | neutral | None | None | None | None | N |
| V/R | 0.1248 | likely_benign | 0.1421 | benign | -0.184 | Destabilizing | 0.044 | N | 0.472 | neutral | None | None | None | None | N |
| V/S | 0.0637 | likely_benign | 0.0679 | benign | -0.815 | Destabilizing | None | N | 0.13 | neutral | None | None | None | None | N |
| V/T | 0.0591 | likely_benign | 0.0602 | benign | -0.819 | Destabilizing | None | N | 0.029 | neutral | None | None | None | None | N |
| V/W | 0.5332 | ambiguous | 0.5777 | pathogenic | -1.08 | Destabilizing | 0.497 | N | 0.366 | neutral | None | None | None | None | N |
| V/Y | 0.2951 | likely_benign | 0.3207 | benign | -0.806 | Destabilizing | 0.022 | N | 0.396 | 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.