Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32757 | 98494;98495;98496 | chr2:178539796;178539795;178539794 | chr2:179404523;179404522;179404521 |
| N2AB | 31116 | 93571;93572;93573 | chr2:178539796;178539795;178539794 | chr2:179404523;179404522;179404521 |
| N2A | 30189 | 90790;90791;90792 | chr2:178539796;178539795;178539794 | chr2:179404523;179404522;179404521 |
| N2B | 23692 | 71299;71300;71301 | chr2:178539796;178539795;178539794 | chr2:179404523;179404522;179404521 |
| Novex-1 | 23817 | 71674;71675;71676 | chr2:178539796;178539795;178539794 | chr2:179404523;179404522;179404521 |
| Novex-2 | 23884 | 71875;71876;71877 | chr2:178539796;178539795;178539794 | chr2:179404523;179404522;179404521 |
| 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 | rs1438849988  |
-0.333 | 0.912 | N | 0.285 | 0.222 | 0.42886291518 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.48E-05 | 0 |
| H/N | rs1438849988 |
-0.333 | 0.912 | N | 0.285 | 0.222 | 0.42886291518 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| H/N | rs1438849988 |
-0.333 | 0.912 | N | 0.285 | 0.222 | 0.42886291518 | gnomAD-4.0.0 | 3.0449E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.61476E-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 | 0.2473 | likely_benign | 0.2581 | benign | -0.578 | Destabilizing | 0.737 | D | 0.463 | neutral | None | None | None | None | N |
| H/C | 0.165 | likely_benign | 0.1673 | benign | 0.043 | Stabilizing | 0.998 | D | 0.506 | neutral | None | None | None | None | N |
| H/D | 0.2839 | likely_benign | 0.2996 | benign | -0.336 | Destabilizing | 0.912 | D | 0.487 | neutral | N | 0.449920873 | None | None | N |
| H/E | 0.291 | likely_benign | 0.3049 | benign | -0.3 | Destabilizing | 0.872 | D | 0.241 | neutral | None | None | None | None | N |
| H/F | 0.2605 | likely_benign | 0.2737 | benign | -0.168 | Destabilizing | 0.872 | D | 0.481 | neutral | None | None | None | None | N |
| H/G | 0.3416 | ambiguous | 0.3689 | ambiguous | -0.862 | Destabilizing | 0.932 | D | 0.517 | neutral | None | None | None | None | N |
| H/I | 0.2948 | likely_benign | 0.3117 | benign | 0.167 | Stabilizing | 0.037 | N | 0.261 | neutral | None | None | None | None | N |
| H/K | 0.2615 | likely_benign | 0.2734 | benign | -0.511 | Destabilizing | 0.773 | D | 0.441 | neutral | None | None | None | None | N |
| H/L | 0.1505 | likely_benign | 0.1596 | benign | 0.167 | Stabilizing | 0.007 | N | 0.262 | neutral | N | 0.471085579 | None | None | N |
| H/M | 0.3627 | ambiguous | 0.3745 | ambiguous | 0.155 | Stabilizing | 0.96 | D | 0.51 | neutral | None | None | None | None | N |
| H/N | 0.1074 | likely_benign | 0.1138 | benign | -0.304 | Destabilizing | 0.912 | D | 0.285 | neutral | N | 0.477934193 | None | None | N |
| H/P | 0.8558 | likely_pathogenic | 0.8852 | pathogenic | -0.059 | Destabilizing | 0.991 | D | 0.513 | neutral | D | 0.535078342 | None | None | N |
| H/Q | 0.1606 | likely_benign | 0.1636 | benign | -0.226 | Destabilizing | 0.837 | D | 0.369 | neutral | N | 0.496866671 | None | None | N |
| H/R | 0.122 | likely_benign | 0.1282 | benign | -0.709 | Destabilizing | 0.016 | N | 0.201 | neutral | N | 0.446611209 | None | None | N |
| H/S | 0.1897 | likely_benign | 0.1975 | benign | -0.41 | Destabilizing | 0.932 | D | 0.433 | neutral | None | None | None | None | N |
| H/T | 0.211 | likely_benign | 0.2241 | benign | -0.289 | Destabilizing | 0.932 | D | 0.492 | neutral | None | None | None | None | N |
| H/V | 0.2219 | likely_benign | 0.234 | benign | -0.059 | Destabilizing | 0.584 | D | 0.468 | neutral | None | None | None | None | N |
| H/W | 0.3995 | ambiguous | 0.3993 | ambiguous | -0.101 | Destabilizing | 0.998 | D | 0.495 | neutral | None | None | None | None | N |
| H/Y | 0.1033 | likely_benign | 0.1059 | benign | 0.278 | Stabilizing | 0.969 | D | 0.319 | neutral | N | 0.465949118 | 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.