Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 6567 | 19924;19925;19926 | chr2:178728125;178728124;178728123 | chr2:179592852;179592851;179592850 |
| N2AB | 6250 | 18973;18974;18975 | chr2:178728125;178728124;178728123 | chr2:179592852;179592851;179592850 |
| N2A | 5323 | 16192;16193;16194 | chr2:178728125;178728124;178728123 | chr2:179592852;179592851;179592850 |
| 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/S | None | None | 0.029 | N | 0.253 | 0.301 | 0.737299269881 | gnomAD-4.0.0 | 7.01308E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.13604E-07 | 0 | 0 |
| I/T | rs1355956536  |
-0.918 | 0.003 | N | 0.19 | 0.235 | 0.719045985532 | gnomAD-2.1.1 | 4.52E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 9.75E-06 | 0 |
| I/T | rs1355956536 |
-0.918 | 0.003 | N | 0.19 | 0.235 | 0.719045985532 | gnomAD-4.0.0 | 2.80523E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.54881E-05 | None | 0 | 3.60231E-04 | 9.13604E-07 | 0 | 0 |
| I/V | rs1415509567 |
-0.718 | 0.001 | N | 0.112 | 0.074 | 0.453962894745 | gnomAD-2.1.1 | 4.5E-06 | None | None | None | None | N | None | 6.69E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| I/V | rs1415509567 |
-0.718 | 0.001 | N | 0.112 | 0.074 | 0.453962894745 | gnomAD-4.0.0 | 1.40212E-06 | None | None | None | None | N | None | 3.10116E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 9.13417E-07 | 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 | 0.4102 | ambiguous | 0.397 | ambiguous | -1.523 | Destabilizing | 0.176 | N | 0.26 | neutral | None | None | None | None | N |
| I/C | 0.7153 | likely_pathogenic | 0.6967 | pathogenic | -0.941 | Destabilizing | 0.981 | D | 0.545 | neutral | None | None | None | None | N |
| I/D | 0.6337 | likely_pathogenic | 0.5972 | pathogenic | -0.845 | Destabilizing | 0.329 | N | 0.462 | neutral | None | None | None | None | N |
| I/E | 0.5106 | ambiguous | 0.4865 | ambiguous | -0.866 | Destabilizing | 0.495 | N | 0.455 | neutral | None | None | None | None | N |
| I/F | 0.1424 | likely_benign | 0.1306 | benign | -1.178 | Destabilizing | 0.642 | D | 0.475 | neutral | N | 0.433818057 | None | None | N |
| I/G | 0.677 | likely_pathogenic | 0.6539 | pathogenic | -1.82 | Destabilizing | 0.495 | N | 0.421 | neutral | None | None | None | None | N |
| I/H | 0.4417 | ambiguous | 0.4108 | ambiguous | -1.016 | Destabilizing | 0.944 | D | 0.556 | neutral | None | None | None | None | N |
| I/K | 0.3222 | likely_benign | 0.2983 | benign | -0.887 | Destabilizing | 0.495 | N | 0.465 | neutral | None | None | None | None | N |
| I/L | 0.1345 | likely_benign | 0.1253 | benign | -0.794 | Destabilizing | 0.139 | N | 0.214 | neutral | N | 0.41452022 | None | None | N |
| I/M | 0.1137 | likely_benign | 0.1133 | benign | -0.567 | Destabilizing | 0.927 | D | 0.488 | neutral | N | 0.459388505 | None | None | N |
| I/N | 0.2285 | likely_benign | 0.2134 | benign | -0.675 | Destabilizing | 0.01 | N | 0.333 | neutral | N | 0.420656758 | None | None | N |
| I/P | 0.7886 | likely_pathogenic | 0.7752 | pathogenic | -1.005 | Destabilizing | 0.828 | D | 0.604 | neutral | None | None | None | None | N |
| I/Q | 0.3887 | ambiguous | 0.3694 | ambiguous | -0.895 | Destabilizing | 0.828 | D | 0.626 | neutral | None | None | None | None | N |
| I/R | 0.262 | likely_benign | 0.2459 | benign | -0.29 | Destabilizing | 0.828 | D | 0.605 | neutral | None | None | None | None | N |
| I/S | 0.2809 | likely_benign | 0.2662 | benign | -1.315 | Destabilizing | 0.029 | N | 0.253 | neutral | N | 0.404551155 | None | None | N |
| I/T | 0.2433 | likely_benign | 0.2308 | benign | -1.219 | Destabilizing | 0.003 | N | 0.19 | neutral | N | 0.381002292 | None | None | N |
| I/V | 0.0901 | likely_benign | 0.0895 | benign | -1.005 | Destabilizing | 0.001 | N | 0.112 | neutral | N | 0.413346784 | None | None | N |
| I/W | 0.7294 | likely_pathogenic | 0.7301 | pathogenic | -1.206 | Destabilizing | 0.995 | D | 0.557 | neutral | None | None | None | None | N |
| I/Y | 0.4246 | ambiguous | 0.3984 | ambiguous | -0.97 | Destabilizing | 0.944 | D | 0.593 | 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.