Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17394 | 52405;52406;52407 | chr2:178608831;178608830;178608829 | chr2:179473558;179473557;179473556 |
| N2AB | 15753 | 47482;47483;47484 | chr2:178608831;178608830;178608829 | chr2:179473558;179473557;179473556 |
| N2A | 14826 | 44701;44702;44703 | chr2:178608831;178608830;178608829 | chr2:179473558;179473557;179473556 |
| N2B | 8329 | 25210;25211;25212 | chr2:178608831;178608830;178608829 | chr2:179473558;179473557;179473556 |
| Novex-1 | 8454 | 25585;25586;25587 | chr2:178608831;178608830;178608829 | chr2:179473558;179473557;179473556 |
| Novex-2 | 8521 | 25786;25787;25788 | chr2:178608831;178608830;178608829 | chr2:179473558;179473557;179473556 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/P | rs727503616  |
None | 1.0 | N | 0.709 | 0.347 | 0.590198699859 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| L/P | rs727503616 |
None | 1.0 | N | 0.709 | 0.347 | 0.590198699859 | gnomAD-4.0.0 | 2.5666E-06 | None | None | None | None | I | None | 3.38765E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/A | 0.1491 | likely_benign | 0.1394 | benign | -0.415 | Destabilizing | 0.997 | D | 0.567 | neutral | None | None | None | None | I |
| L/C | 0.5376 | ambiguous | 0.507 | ambiguous | -0.657 | Destabilizing | 1.0 | D | 0.675 | neutral | None | None | None | None | I |
| L/D | 0.5587 | ambiguous | 0.5389 | ambiguous | -0.181 | Destabilizing | 0.998 | D | 0.691 | prob.neutral | None | None | None | None | I |
| L/E | 0.2052 | likely_benign | 0.1887 | benign | -0.276 | Destabilizing | 0.91 | D | 0.459 | neutral | None | None | None | None | I |
| L/F | 0.1998 | likely_benign | 0.1819 | benign | -0.55 | Destabilizing | 1.0 | D | 0.697 | prob.neutral | N | 0.519788311 | None | None | I |
| L/G | 0.4592 | ambiguous | 0.4438 | ambiguous | -0.536 | Destabilizing | 1.0 | D | 0.701 | prob.neutral | None | None | None | None | I |
| L/H | 0.252 | likely_benign | 0.2242 | benign | 0.118 | Stabilizing | 1.0 | D | 0.699 | prob.neutral | N | 0.466595845 | None | None | I |
| L/I | 0.0921 | likely_benign | 0.0889 | benign | -0.22 | Destabilizing | 0.999 | D | 0.561 | neutral | N | 0.486177169 | None | None | I |
| L/K | 0.1555 | likely_benign | 0.1403 | benign | -0.248 | Destabilizing | 0.999 | D | 0.569 | neutral | None | None | None | None | I |
| L/M | 0.114 | likely_benign | 0.1054 | benign | -0.465 | Destabilizing | 1.0 | D | 0.683 | prob.neutral | None | None | None | None | I |
| L/N | 0.3344 | likely_benign | 0.3251 | benign | -0.071 | Destabilizing | 1.0 | D | 0.703 | prob.neutral | None | None | None | None | I |
| L/P | 0.3141 | likely_benign | 0.3392 | benign | -0.255 | Destabilizing | 1.0 | D | 0.709 | prob.delet. | N | 0.482827433 | None | None | I |
| L/Q | 0.1157 | likely_benign | 0.1067 | benign | -0.272 | Destabilizing | 0.999 | D | 0.661 | neutral | None | None | None | None | I |
| L/R | 0.1584 | likely_benign | 0.1456 | benign | 0.242 | Stabilizing | 0.999 | D | 0.66 | neutral | N | 0.431110533 | None | None | I |
| L/S | 0.2127 | likely_benign | 0.2 | benign | -0.468 | Destabilizing | 0.999 | D | 0.583 | neutral | None | None | None | None | I |
| L/T | 0.1722 | likely_benign | 0.1629 | benign | -0.458 | Destabilizing | 1.0 | D | 0.599 | neutral | None | None | None | None | I |
| L/V | 0.0871 | likely_benign | 0.0813 | benign | -0.255 | Destabilizing | 0.998 | D | 0.572 | neutral | N | 0.466263257 | None | None | I |
| L/W | 0.3569 | ambiguous | 0.3429 | ambiguous | -0.573 | Destabilizing | 1.0 | D | 0.718 | prob.delet. | None | None | None | None | I |
| L/Y | 0.3886 | ambiguous | 0.3603 | ambiguous | -0.319 | Destabilizing | 1.0 | D | 0.68 | prob.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.