Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16409 | 49450;49451;49452 | chr2:178614172;178614171;178614170 | chr2:179478899;179478898;179478897 |
| N2AB | 14768 | 44527;44528;44529 | chr2:178614172;178614171;178614170 | chr2:179478899;179478898;179478897 |
| N2A | 13841 | 41746;41747;41748 | chr2:178614172;178614171;178614170 | chr2:179478899;179478898;179478897 |
| N2B | 7344 | 22255;22256;22257 | chr2:178614172;178614171;178614170 | chr2:179478899;179478898;179478897 |
| Novex-1 | 7469 | 22630;22631;22632 | chr2:178614172;178614171;178614170 | chr2:179478899;179478898;179478897 |
| Novex-2 | 7536 | 22831;22832;22833 | chr2:178614172;178614171;178614170 | chr2:179478899;179478898;179478897 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/D | rs1315841408  |
-0.315 | 0.024 | N | 0.315 | 0.124 | 0.18995819373 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 9.19118E-04 |
| N/D | rs1315841408 |
-0.315 | 0.024 | N | 0.315 | 0.124 | 0.18995819373 | gnomAD-3.1.2 | 6.59E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| N/D | rs1315841408 |
-0.315 | 0.024 | N | 0.315 | 0.124 | 0.18995819373 | gnomAD-4.0.0 | 2.5665E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.79237E-06 | 0 | 0 |
| N/I | rs2056864818 |
None | 0.055 | N | 0.49 | 0.132 | 0.364926071151 | gnomAD-4.0.0 | 1.59385E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.79423E-05 | None | 0 | 0 | 0 | 0 | 0 |
| N/K | rs2056864466 |
None | None | N | 0.132 | 0.116 | 0.0297737177859 | gnomAD-4.0.0 | 1.59385E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86175E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/A | 0.1262 | likely_benign | 0.11 | benign | -0.963 | Destabilizing | 0.007 | N | 0.338 | neutral | None | None | None | None | N |
| N/C | 0.1242 | likely_benign | 0.12 | benign | -0.068 | Destabilizing | 0.864 | D | 0.448 | neutral | None | None | None | None | N |
| N/D | 0.174 | likely_benign | 0.1629 | benign | -0.633 | Destabilizing | 0.024 | N | 0.315 | neutral | N | 0.481682569 | None | None | N |
| N/E | 0.286 | likely_benign | 0.2449 | benign | -0.463 | Destabilizing | 0.007 | N | 0.256 | neutral | None | None | None | None | N |
| N/F | 0.3555 | ambiguous | 0.3356 | benign | -0.584 | Destabilizing | 0.628 | D | 0.479 | neutral | None | None | None | None | N |
| N/G | 0.2534 | likely_benign | 0.2326 | benign | -1.357 | Destabilizing | 0.016 | N | 0.287 | neutral | None | None | None | None | N |
| N/H | 0.064 | likely_benign | 0.0655 | benign | -0.88 | Destabilizing | 0.295 | N | 0.377 | neutral | N | 0.461886999 | None | None | N |
| N/I | 0.1244 | likely_benign | 0.1122 | benign | 0.071 | Stabilizing | 0.055 | N | 0.49 | neutral | N | 0.478940286 | None | None | N |
| N/K | 0.1397 | likely_benign | 0.1128 | benign | -0.148 | Destabilizing | None | N | 0.132 | neutral | N | 0.427759257 | None | None | N |
| N/L | 0.1452 | likely_benign | 0.1253 | benign | 0.071 | Stabilizing | 0.031 | N | 0.368 | neutral | None | None | None | None | N |
| N/M | 0.1892 | likely_benign | 0.167 | benign | 0.343 | Stabilizing | 0.628 | D | 0.47 | neutral | None | None | None | None | N |
| N/P | 0.8846 | likely_pathogenic | 0.8465 | pathogenic | -0.244 | Destabilizing | 0.136 | N | 0.463 | neutral | None | None | None | None | N |
| N/Q | 0.1646 | likely_benign | 0.1424 | benign | -0.69 | Destabilizing | 0.003 | N | 0.191 | neutral | None | None | None | None | N |
| N/R | 0.1432 | likely_benign | 0.1184 | benign | -0.277 | Destabilizing | None | N | 0.169 | neutral | None | None | None | None | N |
| N/S | 0.0633 | likely_benign | 0.0593 | benign | -1.002 | Destabilizing | None | N | 0.153 | neutral | N | 0.402138129 | None | None | N |
| N/T | 0.0638 | likely_benign | 0.057 | benign | -0.618 | Destabilizing | None | N | 0.133 | neutral | N | 0.371294893 | None | None | N |
| N/V | 0.1096 | likely_benign | 0.0961 | benign | -0.244 | Destabilizing | 0.031 | N | 0.397 | neutral | None | None | None | None | N |
| N/W | 0.6499 | likely_pathogenic | 0.6042 | pathogenic | -0.358 | Destabilizing | 0.864 | D | 0.488 | neutral | None | None | None | None | N |
| N/Y | 0.1223 | likely_benign | 0.1095 | benign | -0.101 | Destabilizing | 0.295 | N | 0.538 | neutral | N | 0.474569748 | 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.