Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31529 | 94810;94811;94812 | chr2:178546843;178546842;178546841 | chr2:179411570;179411569;179411568 |
| N2AB | 29888 | 89887;89888;89889 | chr2:178546843;178546842;178546841 | chr2:179411570;179411569;179411568 |
| N2A | 28961 | 87106;87107;87108 | chr2:178546843;178546842;178546841 | chr2:179411570;179411569;179411568 |
| N2B | 22464 | 67615;67616;67617 | chr2:178546843;178546842;178546841 | chr2:179411570;179411569;179411568 |
| Novex-1 | 22589 | 67990;67991;67992 | chr2:178546843;178546842;178546841 | chr2:179411570;179411569;179411568 |
| Novex-2 | 22656 | 68191;68192;68193 | chr2:178546843;178546842;178546841 | chr2:179411570;179411569;179411568 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/T | rs947067361  |
None | 0.051 | N | 0.325 | 0.073 | 0.388970301349 | gnomAD-4.0.0 | 1.37669E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.8097E-06 | 0 | 0 |
| A/V | None | None | 0.022 | N | 0.13 | 0.151 | 0.459552425292 | gnomAD-4.0.0 | 1.60904E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.90271E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.3913 | ambiguous | 0.3402 | ambiguous | -0.926 | Destabilizing | 0.998 | D | 0.505 | neutral | None | None | None | None | I |
| A/D | 0.4193 | ambiguous | 0.3707 | ambiguous | -0.907 | Destabilizing | 0.934 | D | 0.607 | neutral | N | 0.485032949 | None | None | I |
| A/E | 0.2441 | likely_benign | 0.2202 | benign | -0.944 | Destabilizing | 0.842 | D | 0.458 | neutral | None | None | None | None | I |
| A/F | 0.3514 | ambiguous | 0.29 | benign | -0.963 | Destabilizing | 0.974 | D | 0.616 | neutral | None | None | None | None | I |
| A/G | 0.1691 | likely_benign | 0.1498 | benign | -1.011 | Destabilizing | 0.801 | D | 0.402 | neutral | N | 0.503629566 | None | None | I |
| A/H | 0.4403 | ambiguous | 0.384 | ambiguous | -1.039 | Destabilizing | 0.998 | D | 0.605 | neutral | None | None | None | None | I |
| A/I | 0.1561 | likely_benign | 0.1283 | benign | -0.323 | Destabilizing | 0.728 | D | 0.449 | neutral | None | None | None | None | I |
| A/K | 0.3488 | ambiguous | 0.3406 | ambiguous | -1.11 | Destabilizing | 0.067 | N | 0.275 | neutral | None | None | None | None | I |
| A/L | 0.1256 | likely_benign | 0.1074 | benign | -0.323 | Destabilizing | 0.525 | D | 0.413 | neutral | None | None | None | None | I |
| A/M | 0.1519 | likely_benign | 0.1305 | benign | -0.414 | Destabilizing | 0.974 | D | 0.57 | neutral | None | None | None | None | I |
| A/N | 0.2792 | likely_benign | 0.228 | benign | -0.836 | Destabilizing | 0.949 | D | 0.624 | neutral | None | None | None | None | I |
| A/P | 0.0873 | likely_benign | 0.0786 | benign | -0.436 | Destabilizing | 0.012 | N | 0.273 | neutral | N | 0.438841795 | None | None | I |
| A/Q | 0.2414 | likely_benign | 0.2215 | benign | -0.969 | Destabilizing | 0.949 | D | 0.57 | neutral | None | None | None | None | I |
| A/R | 0.3699 | ambiguous | 0.3573 | ambiguous | -0.744 | Destabilizing | 0.904 | D | 0.572 | neutral | None | None | None | None | I |
| A/S | 0.1038 | likely_benign | 0.0964 | benign | -1.165 | Destabilizing | 0.669 | D | 0.415 | neutral | N | 0.504186927 | None | None | I |
| A/T | 0.0862 | likely_benign | 0.0786 | benign | -1.093 | Destabilizing | 0.051 | N | 0.325 | neutral | N | 0.498165032 | None | None | I |
| A/V | 0.0857 | likely_benign | 0.0763 | benign | -0.436 | Destabilizing | 0.022 | N | 0.13 | neutral | N | 0.500223902 | None | None | I |
| A/W | 0.7711 | likely_pathogenic | 0.6943 | pathogenic | -1.239 | Destabilizing | 0.998 | D | 0.692 | prob.neutral | None | None | None | None | I |
| A/Y | 0.4803 | ambiguous | 0.4029 | ambiguous | -0.847 | Destabilizing | 0.991 | D | 0.615 | neutral | None | None | None | None | I |
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.