Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 10127 | 30604;30605;30606 | chr2:178702508;178702507;178702506 | chr2:179567235;179567234;179567233 |
| N2AB | 9810 | 29653;29654;29655 | chr2:178702508;178702507;178702506 | chr2:179567235;179567234;179567233 |
| N2A | 8883 | 26872;26873;26874 | chr2:178702508;178702507;178702506 | chr2:179567235;179567234;179567233 |
| 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 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/I | rs756843499  |
0.467 | 0.984 | None | 0.711 | 0.322 | None | gnomAD-2.1.1 | 4.01E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.85E-06 | 0 |
| N/I | rs756843499 |
0.467 | 0.984 | None | 0.711 | 0.322 | None | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| N/I | rs756843499 |
0.467 | 0.984 | None | 0.711 | 0.322 | None | gnomAD-4.0.0 | 3.04491E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.61481E-06 | 0 | 0 |
| N/K | rs2075185543 |
None | 0.896 | None | 0.563 | 0.15 | 0.148003135375 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| N/K | rs2075185543 |
None | 0.896 | None | 0.563 | 0.15 | 0.148003135375 | gnomAD-4.0.0 | 2.02995E-06 | None | None | None | None | N | None | 3.49589E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| N/T | None | None | 0.64 | None | 0.522 | 0.145 | 0.373173300195 | gnomAD-4.0.0 | 4.80129E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.25001E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/A | 0.672 | likely_pathogenic | 0.6556 | pathogenic | -0.505 | Destabilizing | 0.702 | D | 0.601 | neutral | None | None | None | None | N |
| N/C | 0.7096 | likely_pathogenic | 0.7086 | pathogenic | 0.402 | Stabilizing | 0.999 | D | 0.697 | prob.neutral | None | None | None | None | N |
| N/D | 0.5039 | ambiguous | 0.5203 | ambiguous | -0.158 | Destabilizing | 0.896 | D | 0.549 | neutral | None | None | None | None | N |
| N/E | 0.8449 | likely_pathogenic | 0.8571 | pathogenic | -0.161 | Destabilizing | 0.919 | D | 0.56 | neutral | None | None | None | None | N |
| N/F | 0.9301 | likely_pathogenic | 0.9287 | pathogenic | -0.658 | Destabilizing | 0.996 | D | 0.713 | prob.delet. | None | None | None | None | N |
| N/G | 0.7266 | likely_pathogenic | 0.7246 | pathogenic | -0.741 | Destabilizing | 0.702 | D | 0.508 | neutral | None | None | None | None | N |
| N/H | 0.3161 | likely_benign | 0.3014 | benign | -0.798 | Destabilizing | 0.995 | D | 0.621 | neutral | None | None | None | None | N |
| N/I | 0.7382 | likely_pathogenic | 0.7503 | pathogenic | 0.048 | Stabilizing | 0.984 | D | 0.711 | prob.delet. | None | None | None | None | N |
| N/K | 0.7848 | likely_pathogenic | 0.7812 | pathogenic | -0.143 | Destabilizing | 0.896 | D | 0.563 | neutral | None | None | None | None | N |
| N/L | 0.7526 | likely_pathogenic | 0.7568 | pathogenic | 0.048 | Stabilizing | 0.919 | D | 0.658 | neutral | None | None | None | None | N |
| N/M | 0.7968 | likely_pathogenic | 0.7907 | pathogenic | 0.513 | Stabilizing | 0.999 | D | 0.691 | prob.neutral | None | None | None | None | N |
| N/P | 0.9437 | likely_pathogenic | 0.9581 | pathogenic | -0.108 | Destabilizing | 0.988 | D | 0.691 | prob.neutral | None | None | None | None | N |
| N/Q | 0.7508 | likely_pathogenic | 0.7449 | pathogenic | -0.525 | Destabilizing | 0.988 | D | 0.597 | neutral | None | None | None | None | N |
| N/R | 0.7533 | likely_pathogenic | 0.7466 | pathogenic | -0.13 | Destabilizing | 0.976 | D | 0.592 | neutral | None | None | None | None | N |
| N/S | 0.1536 | likely_benign | 0.1404 | benign | -0.332 | Destabilizing | 0.016 | N | 0.254 | neutral | None | None | None | None | N |
| N/T | 0.3808 | ambiguous | 0.3707 | ambiguous | -0.183 | Destabilizing | 0.64 | D | 0.522 | neutral | None | None | None | None | N |
| N/V | 0.726 | likely_pathogenic | 0.735 | pathogenic | -0.108 | Destabilizing | 0.976 | D | 0.662 | neutral | None | None | None | None | N |
| N/W | 0.9547 | likely_pathogenic | 0.9556 | pathogenic | -0.584 | Destabilizing | 0.999 | D | 0.711 | prob.delet. | None | None | None | None | N |
| N/Y | 0.5406 | ambiguous | 0.5408 | ambiguous | -0.365 | Destabilizing | 0.995 | D | 0.705 | 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.