Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23165 | 69718;69719;69720 | chr2:178576751;178576750;178576749 | chr2:179441478;179441477;179441476 |
| N2AB | 21524 | 64795;64796;64797 | chr2:178576751;178576750;178576749 | chr2:179441478;179441477;179441476 |
| N2A | 20597 | 62014;62015;62016 | chr2:178576751;178576750;178576749 | chr2:179441478;179441477;179441476 |
| N2B | 14100 | 42523;42524;42525 | chr2:178576751;178576750;178576749 | chr2:179441478;179441477;179441476 |
| Novex-1 | 14225 | 42898;42899;42900 | chr2:178576751;178576750;178576749 | chr2:179441478;179441477;179441476 |
| Novex-2 | 14292 | 43099;43100;43101 | chr2:178576751;178576750;178576749 | chr2:179441478;179441477;179441476 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/E | rs757041441  |
-0.145 | 0.704 | N | 0.297 | 0.124 | 0.349870743963 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.59E-05 | None | 0 | None | 0 | 0 | 0 |
| D/E | rs757041441 |
-0.145 | 0.704 | N | 0.297 | 0.124 | 0.349870743963 | gnomAD-4.0.0 | 1.59178E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.77577E-05 | None | 0 | 0 | 0 | 0 | 0 |
| D/H | rs778699055 |
-0.287 | 0.988 | N | 0.31 | 0.179 | 0.32306181527 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.91E-06 | 0 |
| D/H | rs778699055 |
-0.287 | 0.988 | N | 0.31 | 0.179 | 0.32306181527 | gnomAD-4.0.0 | 3.42153E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.49785E-06 | 0 | 0 |
| D/N | None | None | 0.134 | N | 0.168 | 0.11 | 0.215869574891 | gnomAD-4.0.0 | 6.84306E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.9957E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.1759 | likely_benign | 0.1752 | benign | -0.228 | Destabilizing | 0.826 | D | 0.343 | neutral | N | 0.513072982 | None | None | N |
| D/C | 0.5209 | ambiguous | 0.5342 | ambiguous | 0.114 | Stabilizing | 0.999 | D | 0.361 | neutral | None | None | None | None | N |
| D/E | 0.1594 | likely_benign | 0.1564 | benign | -0.311 | Destabilizing | 0.704 | D | 0.297 | neutral | N | 0.481480639 | None | None | N |
| D/F | 0.4194 | ambiguous | 0.4199 | ambiguous | -0.257 | Destabilizing | 0.1 | N | 0.328 | neutral | None | None | None | None | N |
| D/G | 0.2142 | likely_benign | 0.2112 | benign | -0.418 | Destabilizing | 0.92 | D | 0.301 | neutral | N | 0.521231105 | None | None | N |
| D/H | 0.1997 | likely_benign | 0.2137 | benign | -0.161 | Destabilizing | 0.988 | D | 0.31 | neutral | N | 0.488908043 | None | None | N |
| D/I | 0.3081 | likely_benign | 0.299 | benign | 0.218 | Stabilizing | 0.884 | D | 0.443 | neutral | None | None | None | None | N |
| D/K | 0.352 | ambiguous | 0.3568 | ambiguous | 0.32 | Stabilizing | 0.884 | D | 0.35 | neutral | None | None | None | None | N |
| D/L | 0.3348 | likely_benign | 0.3376 | benign | 0.218 | Stabilizing | 0.884 | D | 0.403 | neutral | None | None | None | None | N |
| D/M | 0.5092 | ambiguous | 0.4911 | ambiguous | 0.388 | Stabilizing | 0.991 | D | 0.377 | neutral | None | None | None | None | N |
| D/N | 0.0987 | likely_benign | 0.0949 | benign | 0.069 | Stabilizing | 0.134 | N | 0.168 | neutral | N | 0.475208027 | None | None | N |
| D/P | 0.8744 | likely_pathogenic | 0.8828 | pathogenic | 0.092 | Stabilizing | 0.997 | D | 0.345 | neutral | None | None | None | None | N |
| D/Q | 0.2757 | likely_benign | 0.2888 | benign | 0.104 | Stabilizing | 0.373 | N | 0.089 | neutral | None | None | None | None | N |
| D/R | 0.3563 | ambiguous | 0.3774 | ambiguous | 0.425 | Stabilizing | 0.982 | D | 0.398 | neutral | None | None | None | None | N |
| D/S | 0.1124 | likely_benign | 0.1082 | benign | -0.029 | Destabilizing | 0.939 | D | 0.217 | neutral | None | None | None | None | N |
| D/T | 0.2077 | likely_benign | 0.1984 | benign | 0.117 | Stabilizing | 0.939 | D | 0.349 | neutral | None | None | None | None | N |
| D/V | 0.1878 | likely_benign | 0.1799 | benign | 0.092 | Stabilizing | 0.134 | N | 0.305 | neutral | N | 0.497450169 | None | None | N |
| D/W | 0.7926 | likely_pathogenic | 0.7961 | pathogenic | -0.166 | Destabilizing | 0.999 | D | 0.383 | neutral | None | None | None | None | N |
| D/Y | 0.1564 | likely_benign | 0.1628 | benign | -0.033 | Destabilizing | 0.953 | D | 0.421 | neutral | N | 0.460894723 | 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.