Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 7988 | 24187;24188;24189 | chr2:178719428;178719427;178719426 | chr2:179584155;179584154;179584153 |
| N2AB | 7671 | 23236;23237;23238 | chr2:178719428;178719427;178719426 | chr2:179584155;179584154;179584153 |
| N2A | 6744 | 20455;20456;20457 | chr2:178719428;178719427;178719426 | chr2:179584155;179584154;179584153 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/T | rs1481820577  |
-0.478 | 0.001 | N | 0.143 | 0.169 | 0.352262096564 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.49E-05 | 0 |
| I/T | rs1481820577 |
-0.478 | 0.001 | N | 0.143 | 0.169 | 0.352262096564 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 4.41E-05 | 0 | 0 |
| I/T | rs1481820577 |
-0.478 | 0.001 | N | 0.143 | 0.169 | 0.352262096564 | gnomAD-4.0.0 | 2.05215E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.59548E-05 | 0 | 2.84592E-05 |
| I/V | None | None | None | N | 0.123 | 0.044 | 0.221019684889 | gnomAD-4.0.0 | 3.18667E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.72741E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.2633 | likely_benign | 0.2891 | benign | -1.018 | Destabilizing | 0.007 | N | 0.219 | neutral | None | None | None | None | N |
| I/C | 0.6169 | likely_pathogenic | 0.6722 | pathogenic | -0.82 | Destabilizing | 0.356 | N | 0.274 | neutral | None | None | None | None | N |
| I/D | 0.6174 | likely_pathogenic | 0.6463 | pathogenic | -0.15 | Destabilizing | 0.072 | N | 0.384 | neutral | None | None | None | None | N |
| I/E | 0.4705 | ambiguous | 0.501 | ambiguous | -0.18 | Destabilizing | 0.072 | N | 0.381 | neutral | None | None | None | None | N |
| I/F | 0.1403 | likely_benign | 0.1604 | benign | -0.63 | Destabilizing | 0.171 | N | 0.308 | neutral | N | 0.46421449 | None | None | N |
| I/G | 0.4796 | ambiguous | 0.5322 | ambiguous | -1.27 | Destabilizing | 0.038 | N | 0.352 | neutral | None | None | None | None | N |
| I/H | 0.3524 | ambiguous | 0.3914 | ambiguous | -0.312 | Destabilizing | 0.864 | D | 0.289 | neutral | None | None | None | None | N |
| I/K | 0.3065 | likely_benign | 0.3263 | benign | -0.621 | Destabilizing | 0.072 | N | 0.401 | neutral | None | None | None | None | N |
| I/L | 0.1004 | likely_benign | 0.1055 | benign | -0.436 | Destabilizing | 0.005 | N | 0.137 | neutral | N | 0.439814869 | None | None | N |
| I/M | 0.1052 | likely_benign | 0.1094 | benign | -0.49 | Destabilizing | 0.171 | N | 0.313 | neutral | N | 0.490803837 | None | None | N |
| I/N | 0.2128 | likely_benign | 0.2275 | benign | -0.505 | Destabilizing | 0.055 | N | 0.395 | neutral | N | 0.497172449 | None | None | N |
| I/P | 0.6672 | likely_pathogenic | 0.7 | pathogenic | -0.596 | Destabilizing | 0.356 | N | 0.391 | neutral | None | None | None | None | N |
| I/Q | 0.3058 | likely_benign | 0.3364 | benign | -0.663 | Destabilizing | 0.356 | N | 0.367 | neutral | None | None | None | None | N |
| I/R | 0.2214 | likely_benign | 0.2422 | benign | -0.048 | Destabilizing | 0.214 | N | 0.378 | neutral | None | None | None | None | N |
| I/S | 0.167 | likely_benign | 0.1832 | benign | -1.11 | Destabilizing | None | N | 0.133 | neutral | N | 0.42958202 | None | None | N |
| I/T | 0.1127 | likely_benign | 0.1109 | benign | -1.021 | Destabilizing | 0.001 | N | 0.143 | neutral | N | 0.367069337 | None | None | N |
| I/V | 0.0758 | likely_benign | 0.0817 | benign | -0.596 | Destabilizing | None | N | 0.123 | neutral | N | 0.409185318 | None | None | N |
| I/W | 0.6532 | likely_pathogenic | 0.7004 | pathogenic | -0.64 | Destabilizing | 0.864 | D | 0.337 | neutral | None | None | None | None | N |
| I/Y | 0.4317 | ambiguous | 0.482 | ambiguous | -0.42 | Destabilizing | 0.356 | N | 0.319 | 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.