Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
---|---|---|---|---|
IC | 5687 | 17284;17285;17286 | chr2:178731816;178731815;178731814 | chr2:179596543;179596542;179596541 |
N2AB | 5370 | 16333;16334;16335 | chr2:178731816;178731815;178731814 | chr2:179596543;179596542;179596541 |
N2A | 4443 | 13552;13553;13554 | chr2:178731816;178731815;178731814 | chr2:179596543;179596542;179596541 |
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 |
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/V | None | None | None | N | 0.247 | 0.075 | 0.124217242631 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.66327E-05 |
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 | 0.1787 | likely_benign | 0.2346 | benign | -0.806 | Destabilizing | 0.007 | N | 0.378 | neutral | None | None | None | None | I |
I/C | 0.3837 | ambiguous | 0.4777 | ambiguous | -0.782 | Destabilizing | 0.628 | D | 0.576 | neutral | None | None | None | None | I |
I/D | 0.4325 | ambiguous | 0.5436 | ambiguous | 0.016 | Stabilizing | 0.072 | N | 0.641 | neutral | None | None | None | None | I |
I/E | 0.3565 | ambiguous | 0.4556 | ambiguous | -0.023 | Destabilizing | 0.072 | N | 0.579 | neutral | None | None | None | None | I |
I/F | 0.0819 | likely_benign | 0.0941 | benign | -0.55 | Destabilizing | None | N | 0.297 | neutral | N | 0.404284583 | None | None | I |
I/G | 0.3663 | ambiguous | 0.4645 | ambiguous | -1.038 | Destabilizing | 0.072 | N | 0.581 | neutral | None | None | None | None | I |
I/H | 0.2209 | likely_benign | 0.2828 | benign | -0.3 | Destabilizing | 0.628 | D | 0.634 | neutral | None | None | None | None | I |
I/K | 0.2169 | likely_benign | 0.2847 | benign | -0.478 | Destabilizing | None | N | 0.439 | neutral | None | None | None | None | I |
I/L | 0.0617 | likely_benign | 0.0779 | benign | -0.292 | Destabilizing | None | N | 0.215 | neutral | N | 0.395934459 | None | None | I |
I/M | 0.0772 | likely_benign | 0.0909 | benign | -0.457 | Destabilizing | 0.005 | N | 0.295 | neutral | N | 0.496386668 | None | None | I |
I/N | 0.1571 | likely_benign | 0.2002 | benign | -0.33 | Destabilizing | 0.055 | N | 0.653 | neutral | N | 0.449208797 | None | None | I |
I/P | 0.4605 | ambiguous | 0.6262 | pathogenic | -0.429 | Destabilizing | 0.136 | N | 0.659 | neutral | None | None | None | None | I |
I/Q | 0.2006 | likely_benign | 0.268 | benign | -0.459 | Destabilizing | 0.214 | N | 0.661 | neutral | None | None | None | None | I |
I/R | 0.1504 | likely_benign | 0.2012 | benign | -0.023 | Destabilizing | 0.038 | N | 0.645 | neutral | None | None | None | None | I |
I/S | 0.1364 | likely_benign | 0.156 | benign | -0.887 | Destabilizing | 0.002 | N | 0.401 | neutral | N | 0.364707475 | None | None | I |
I/T | 0.1228 | likely_benign | 0.1561 | benign | -0.804 | Destabilizing | 0.001 | N | 0.321 | neutral | N | 0.458521713 | None | None | I |
I/V | 0.0722 | likely_benign | 0.084 | benign | -0.429 | Destabilizing | None | N | 0.247 | neutral | N | 0.399492052 | None | None | I |
I/W | 0.4618 | ambiguous | 0.5433 | ambiguous | -0.588 | Destabilizing | 0.864 | D | 0.618 | neutral | None | None | None | None | I |
I/Y | 0.2638 | likely_benign | 0.3245 | benign | -0.346 | Destabilizing | 0.038 | N | 0.605 | 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.