Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
---|---|---|---|---|
IC | 8490 | 25693;25694;25695 | chr2:178717266;178717265;178717264 | chr2:179581993;179581992;179581991 |
N2AB | 8173 | 24742;24743;24744 | chr2:178717266;178717265;178717264 | chr2:179581993;179581992;179581991 |
N2A | 7246 | 21961;21962;21963 | chr2:178717266;178717265;178717264 | chr2:179581993;179581992;179581991 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
A/S | None | None | 0.021 | N | 0.31 | 0.08 | 0.159798565429 | gnomAD-4.0.0 | 3.42136E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 1.7343E-04 | 0 | 4.638E-05 | 0 |
A/T | rs1411592951 | -0.794 | 0.062 | N | 0.445 | 0.047 | 0.184867976434 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
A/T | rs1411592951 | -0.794 | 0.062 | N | 0.445 | 0.047 | 0.184867976434 | gnomAD-4.0.0 | 1.36854E-06 | None | None | None | None | N | None | 0 | 2.23644E-05 | None | 0 | 0 | None | 0 | 0 | 8.99548E-07 | 0 | 0 |
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 | 0.726 | likely_pathogenic | 0.5994 | pathogenic | -0.703 | Destabilizing | 0.999 | D | 0.64 | neutral | None | None | None | None | N |
A/D | 0.7427 | likely_pathogenic | 0.6006 | pathogenic | -2.156 | Highly Destabilizing | 0.884 | D | 0.685 | prob.neutral | N | 0.45484274 | None | None | N |
A/E | 0.5789 | likely_pathogenic | 0.4302 | ambiguous | -1.899 | Destabilizing | 0.876 | D | 0.618 | neutral | None | None | None | None | N |
A/F | 0.4191 | ambiguous | 0.3247 | benign | -0.337 | Destabilizing | 0.214 | N | 0.538 | neutral | None | None | None | None | N |
A/G | 0.2149 | likely_benign | 0.18 | benign | -1.224 | Destabilizing | 0.425 | N | 0.571 | neutral | N | 0.510714962 | None | None | N |
A/H | 0.7078 | likely_pathogenic | 0.5632 | ambiguous | -1.986 | Destabilizing | 0.996 | D | 0.643 | neutral | None | None | None | None | N |
A/I | 0.4331 | ambiguous | 0.3311 | benign | 0.749 | Stabilizing | 0.95 | D | 0.663 | neutral | None | None | None | None | N |
A/K | 0.7986 | likely_pathogenic | 0.6482 | pathogenic | -0.681 | Destabilizing | 0.95 | D | 0.611 | neutral | None | None | None | None | N |
A/L | 0.2965 | likely_benign | 0.2225 | benign | 0.749 | Stabilizing | 0.886 | D | 0.607 | neutral | None | None | None | None | N |
A/M | 0.2921 | likely_benign | 0.2326 | benign | 0.331 | Stabilizing | 0.886 | D | 0.563 | neutral | None | None | None | None | N |
A/N | 0.491 | ambiguous | 0.3676 | ambiguous | -1.14 | Destabilizing | 0.805 | D | 0.689 | prob.neutral | None | None | None | None | N |
A/P | 0.9904 | likely_pathogenic | 0.9809 | pathogenic | 0.311 | Stabilizing | 0.982 | D | 0.689 | prob.neutral | N | 0.46636363 | None | None | N |
A/Q | 0.5245 | ambiguous | 0.4083 | ambiguous | -0.803 | Destabilizing | 0.772 | D | 0.477 | neutral | None | None | None | None | N |
A/R | 0.7094 | likely_pathogenic | 0.5575 | ambiguous | -1.099 | Destabilizing | 0.992 | D | 0.682 | prob.neutral | None | None | None | None | N |
A/S | 0.1182 | likely_benign | 0.1028 | benign | -1.493 | Destabilizing | 0.021 | N | 0.31 | neutral | N | 0.406145013 | None | None | N |
A/T | 0.1436 | likely_benign | 0.1113 | benign | -1.097 | Destabilizing | 0.062 | N | 0.445 | neutral | N | 0.411377474 | None | None | N |
A/V | 0.2277 | likely_benign | 0.1759 | benign | 0.311 | Stabilizing | 0.687 | D | 0.569 | neutral | N | 0.438564076 | None | None | N |
A/W | 0.8702 | likely_pathogenic | 0.7846 | pathogenic | -1.276 | Destabilizing | 1.0 | D | 0.679 | prob.neutral | None | None | None | None | N |
A/Y | 0.6176 | likely_pathogenic | 0.4876 | ambiguous | -0.619 | Destabilizing | 0.985 | D | 0.677 | prob.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.