Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32889 | 98890;98891;98892 | chr2:178539400;178539399;178539398 | chr2:179404127;179404126;179404125 |
| N2AB | 31248 | 93967;93968;93969 | chr2:178539400;178539399;178539398 | chr2:179404127;179404126;179404125 |
| N2A | 30321 | 91186;91187;91188 | chr2:178539400;178539399;178539398 | chr2:179404127;179404126;179404125 |
| N2B | 23824 | 71695;71696;71697 | chr2:178539400;178539399;178539398 | chr2:179404127;179404126;179404125 |
| Novex-1 | 23949 | 72070;72071;72072 | chr2:178539400;178539399;178539398 | chr2:179404127;179404126;179404125 |
| Novex-2 | 24016 | 72271;72272;72273 | chr2:178539400;178539399;178539398 | chr2:179404127;179404126;179404125 |
| 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 | rs771323245  |
-0.94 | 0.002 | N | 0.287 | 0.06 | 0.0986583533028 | gnomAD-2.1.1 | 7.14E-06 | None | None | None | None | N | None | 0 | 2.83E-05 | None | 0 | 5.13E-05 | None | 0 | None | 0 | 0 | 0 |
| T/A | rs771323245 |
-0.94 | 0.002 | N | 0.287 | 0.06 | 0.0986583533028 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.92456E-04 | None | 0 | 0 | 0 | 0 | 0 |
| T/A | rs771323245 |
-0.94 | 0.002 | N | 0.287 | 0.06 | 0.0986583533028 | gnomAD-4.0.0 | 2.56849E-06 | None | None | None | None | N | None | 0 | 1.69641E-05 | None | 0 | 2.42718E-05 | None | 0 | 0 | 0 | 0 | 0 |
| T/K | rs1693292110 |
None | 0.052 | N | 0.555 | 0.082 | 0.126345400529 | gnomAD-4.0.0 | 1.59656E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.87195E-06 | 0 | 0 |
| T/R | None | None | 0.162 | N | 0.536 | 0.1 | 0.16115917748 | gnomAD-4.0.0 | 1.59656E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.87195E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.1031 | likely_benign | 0.0976 | benign | -0.805 | Destabilizing | 0.002 | N | 0.287 | neutral | N | 0.472562006 | None | None | N |
| T/C | 0.3159 | likely_benign | 0.2811 | benign | -0.626 | Destabilizing | 0.204 | N | 0.389 | neutral | None | None | None | None | N |
| T/D | 0.5398 | ambiguous | 0.5185 | ambiguous | -0.432 | Destabilizing | 0.068 | N | 0.579 | neutral | None | None | None | None | N |
| T/E | 0.3116 | likely_benign | 0.3086 | benign | -0.359 | Destabilizing | 0.068 | N | 0.551 | neutral | None | None | None | None | N |
| T/F | 0.1256 | likely_benign | 0.1166 | benign | -0.65 | Destabilizing | 0.035 | N | 0.574 | neutral | None | None | None | None | N |
| T/G | 0.4112 | ambiguous | 0.365 | ambiguous | -1.138 | Destabilizing | 0.068 | N | 0.55 | neutral | None | None | None | None | N |
| T/H | 0.2437 | likely_benign | 0.224 | benign | -1.348 | Destabilizing | 0.439 | N | 0.497 | neutral | None | None | None | None | N |
| T/I | 0.0383 | likely_benign | 0.0413 | benign | 0.011 | Stabilizing | None | N | 0.233 | neutral | N | 0.426424285 | None | None | N |
| T/K | 0.1514 | likely_benign | 0.1571 | benign | -0.764 | Destabilizing | 0.052 | N | 0.555 | neutral | N | 0.438796149 | None | None | N |
| T/L | 0.0445 | likely_benign | 0.0455 | benign | 0.011 | Stabilizing | None | N | 0.439 | neutral | None | None | None | None | N |
| T/M | 0.0604 | likely_benign | 0.059 | benign | 0.065 | Stabilizing | 0.001 | N | 0.406 | neutral | None | None | None | None | N |
| T/N | 0.1466 | likely_benign | 0.1304 | benign | -0.956 | Destabilizing | 0.182 | N | 0.429 | neutral | None | None | None | None | N |
| T/P | 0.2195 | likely_benign | 0.2125 | benign | -0.226 | Destabilizing | 0.144 | N | 0.573 | neutral | N | 0.458819213 | None | None | N |
| T/Q | 0.2026 | likely_benign | 0.197 | benign | -0.942 | Destabilizing | 0.204 | N | 0.525 | neutral | None | None | None | None | N |
| T/R | 0.1326 | likely_benign | 0.1375 | benign | -0.675 | Destabilizing | 0.162 | N | 0.536 | neutral | N | 0.458728704 | None | None | N |
| T/S | 0.1548 | likely_benign | 0.1374 | benign | -1.218 | Destabilizing | 0.011 | N | 0.284 | neutral | N | 0.482104209 | None | None | N |
| T/V | 0.0496 | likely_benign | 0.0526 | benign | -0.226 | Destabilizing | None | N | 0.096 | neutral | None | None | None | None | N |
| T/W | 0.4963 | ambiguous | 0.4898 | ambiguous | -0.667 | Destabilizing | 0.747 | D | 0.546 | neutral | None | None | None | None | N |
| T/Y | 0.2163 | likely_benign | 0.2034 | benign | -0.391 | Destabilizing | 0.204 | N | 0.585 | 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.