Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16738 | 50437;50438;50439 | chr2:178612313;178612312;178612311 | chr2:179477040;179477039;179477038 |
| N2AB | 15097 | 45514;45515;45516 | chr2:178612313;178612312;178612311 | chr2:179477040;179477039;179477038 |
| N2A | 14170 | 42733;42734;42735 | chr2:178612313;178612312;178612311 | chr2:179477040;179477039;179477038 |
| N2B | 7673 | 23242;23243;23244 | chr2:178612313;178612312;178612311 | chr2:179477040;179477039;179477038 |
| Novex-1 | 7798 | 23617;23618;23619 | chr2:178612313;178612312;178612311 | chr2:179477040;179477039;179477038 |
| Novex-2 | 7865 | 23818;23819;23820 | chr2:178612313;178612312;178612311 | chr2:179477040;179477039;179477038 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/G | None | None | 0.999 | D | 0.741 | 0.431 | 0.454987352986 | gnomAD-4.0.0 | 3.18788E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.72505E-06 | 0 | 0 |
| E/K | rs148018042  |
0.505 | 1.0 | N | 0.82 | 0.352 | None | gnomAD-2.1.1 | 1.46918E-04 | None | None | None | None | N | None | 4.14E-05 | 0 | None | 0 | 1.04112E-04 | None | 2.94426E-04 | None | 8.01E-05 | 2.03896E-04 | 1.41044E-04 |
| E/K | rs148018042 |
0.505 | 1.0 | N | 0.82 | 0.352 | None | gnomAD-3.1.2 | 1.84232E-04 | None | None | None | None | N | None | 0 | 1.9667E-04 | 0 | 0 | 1.94932E-04 | None | 9.42E-05 | 0 | 3.23767E-04 | 2.07383E-04 | 0 |
| E/K | rs148018042 |
0.505 | 1.0 | N | 0.82 | 0.352 | None | 1000 genomes | 3.99361E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 0 | 1E-03 | None | None | None | 1E-03 | None |
| E/K | rs148018042 |
0.505 | 1.0 | N | 0.82 | 0.352 | None | gnomAD-4.0.0 | 2.19528E-04 | None | None | None | None | N | None | 4.00267E-05 | 5.00601E-05 | None | 0 | 8.97263E-05 | None | 4.6897E-05 | 0 | 2.67136E-04 | 1.53809E-04 | 1.92314E-04 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/A | 0.6525 | likely_pathogenic | 0.61 | pathogenic | -0.43 | Destabilizing | 0.997 | D | 0.811 | deleterious | N | 0.499616372 | None | None | N |
| E/C | 0.9878 | likely_pathogenic | 0.987 | pathogenic | -0.225 | Destabilizing | 1.0 | D | 0.822 | deleterious | None | None | None | None | N |
| E/D | 0.6973 | likely_pathogenic | 0.6524 | pathogenic | -0.939 | Destabilizing | 0.997 | D | 0.775 | deleterious | N | 0.463630471 | None | None | N |
| E/F | 0.9812 | likely_pathogenic | 0.9803 | pathogenic | 0.469 | Stabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| E/G | 0.8436 | likely_pathogenic | 0.7982 | pathogenic | -0.84 | Destabilizing | 0.999 | D | 0.741 | deleterious | D | 0.548505556 | None | None | N |
| E/H | 0.9674 | likely_pathogenic | 0.9584 | pathogenic | 0.413 | Stabilizing | 1.0 | D | 0.757 | deleterious | None | None | None | None | N |
| E/I | 0.8521 | likely_pathogenic | 0.8365 | pathogenic | 0.697 | Stabilizing | 0.999 | D | 0.819 | deleterious | None | None | None | None | N |
| E/K | 0.8444 | likely_pathogenic | 0.8054 | pathogenic | -0.174 | Destabilizing | 1.0 | D | 0.82 | deleterious | N | 0.515686521 | None | None | N |
| E/L | 0.9162 | likely_pathogenic | 0.8974 | pathogenic | 0.697 | Stabilizing | 0.999 | D | 0.753 | deleterious | None | None | None | None | N |
| E/M | 0.8962 | likely_pathogenic | 0.8844 | pathogenic | 0.975 | Stabilizing | 1.0 | D | 0.846 | deleterious | None | None | None | None | N |
| E/N | 0.9016 | likely_pathogenic | 0.8827 | pathogenic | -0.932 | Destabilizing | 0.999 | D | 0.786 | deleterious | None | None | None | None | N |
| E/P | 0.9715 | likely_pathogenic | 0.9667 | pathogenic | 0.343 | Stabilizing | 0.999 | D | 0.751 | deleterious | None | None | None | None | N |
| E/Q | 0.6101 | likely_pathogenic | 0.5563 | ambiguous | -0.736 | Destabilizing | 1.0 | D | 0.807 | deleterious | N | 0.477819666 | None | None | N |
| E/R | 0.9132 | likely_pathogenic | 0.8862 | pathogenic | 0.196 | Stabilizing | 0.999 | D | 0.784 | deleterious | None | None | None | None | N |
| E/S | 0.7667 | likely_pathogenic | 0.7361 | pathogenic | -1.233 | Destabilizing | 0.998 | D | 0.815 | deleterious | None | None | None | None | N |
| E/T | 0.7441 | likely_pathogenic | 0.7179 | pathogenic | -0.873 | Destabilizing | 0.999 | D | 0.739 | deleterious | None | None | None | None | N |
| E/V | 0.6568 | likely_pathogenic | 0.6262 | pathogenic | 0.343 | Stabilizing | 0.999 | D | 0.778 | deleterious | D | 0.547632978 | None | None | N |
| E/W | 0.9962 | likely_pathogenic | 0.9958 | pathogenic | 0.768 | Stabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| E/Y | 0.9782 | likely_pathogenic | 0.9764 | pathogenic | 0.776 | Stabilizing | 1.0 | D | 0.847 | deleterious | 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.