Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 5471 | 16636;16637;16638 | chr2:178732650;178732649;178732648 | chr2:179597377;179597376;179597375 |
| N2AB | 5154 | 15685;15686;15687 | chr2:178732650;178732649;178732648 | chr2:179597377;179597376;179597375 |
| N2A | 4227 | 12904;12905;12906 | chr2:178732650;178732649;178732648 | chr2:179597377;179597376;179597375 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/G | rs757968547  |
-1.595 | 0.002 | N | 0.335 | 0.185 | 0.0954503805726 | gnomAD-2.1.1 | 4.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.3E-05 | None | 0 | 0 | 0 |
| S/G | rs757968547 |
-1.595 | 0.002 | N | 0.335 | 0.185 | 0.0954503805726 | gnomAD-4.0.0 | 3.18946E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.8748E-05 | 0 |
| S/N | rs749906091 |
-1.159 | 0.642 | N | 0.627 | 0.202 | 0.141422826196 | gnomAD-2.1.1 | 4.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.3E-05 | None | 0 | 0 | 0 |
| S/N | rs749906091 |
-1.159 | 0.642 | N | 0.627 | 0.202 | 0.141422826196 | gnomAD-4.0.0 | 4.78435E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.78288E-05 | None | 0 | 0 | 2.86341E-06 | 1.43773E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.08 | likely_benign | 0.0816 | benign | -1.036 | Destabilizing | 0.003 | N | 0.278 | neutral | None | None | None | None | N |
| S/C | 0.1084 | likely_benign | 0.1079 | benign | -0.571 | Destabilizing | 0.993 | D | 0.779 | deleterious | N | 0.29310943 | None | None | N |
| S/D | 0.9358 | likely_pathogenic | 0.9566 | pathogenic | -1.442 | Destabilizing | 0.704 | D | 0.63 | neutral | None | None | None | None | N |
| S/E | 0.9614 | likely_pathogenic | 0.975 | pathogenic | -1.207 | Destabilizing | 0.704 | D | 0.605 | neutral | None | None | None | None | N |
| S/F | 0.6813 | likely_pathogenic | 0.7806 | pathogenic | -0.821 | Destabilizing | 0.944 | D | 0.819 | deleterious | None | None | None | None | N |
| S/G | 0.1064 | likely_benign | 0.112 | benign | -1.438 | Destabilizing | 0.002 | N | 0.335 | neutral | N | 0.470599136 | None | None | N |
| S/H | 0.9141 | likely_pathogenic | 0.9422 | pathogenic | -1.585 | Destabilizing | 0.017 | N | 0.587 | neutral | None | None | None | None | N |
| S/I | 0.3883 | ambiguous | 0.4365 | ambiguous | 0.009 | Stabilizing | 0.863 | D | 0.797 | deleterious | N | 0.46921227 | None | None | N |
| S/K | 0.9924 | likely_pathogenic | 0.9958 | pathogenic | 0.09 | Stabilizing | 0.704 | D | 0.627 | neutral | None | None | None | None | N |
| S/L | 0.2546 | likely_benign | 0.2982 | benign | 0.009 | Stabilizing | 0.543 | D | 0.727 | prob.delet. | None | None | None | None | N |
| S/M | 0.3579 | ambiguous | 0.4022 | ambiguous | -0.189 | Destabilizing | 0.981 | D | 0.782 | deleterious | None | None | None | None | N |
| S/N | 0.5601 | ambiguous | 0.6307 | pathogenic | -0.682 | Destabilizing | 0.642 | D | 0.627 | neutral | N | 0.453019088 | None | None | N |
| S/P | 0.8795 | likely_pathogenic | 0.9299 | pathogenic | -0.308 | Destabilizing | 0.828 | D | 0.76 | deleterious | None | None | None | None | N |
| S/Q | 0.9492 | likely_pathogenic | 0.964 | pathogenic | -0.388 | Destabilizing | 0.944 | D | 0.694 | prob.neutral | None | None | None | None | N |
| S/R | 0.9859 | likely_pathogenic | 0.9919 | pathogenic | -0.39 | Destabilizing | 0.784 | D | 0.761 | deleterious | N | 0.500401968 | None | None | N |
| S/T | 0.0948 | likely_benign | 0.1043 | benign | -0.361 | Destabilizing | 0.01 | N | 0.294 | neutral | N | 0.47025242 | None | None | N |
| S/V | 0.2732 | likely_benign | 0.3034 | benign | -0.308 | Destabilizing | 0.543 | D | 0.731 | prob.delet. | None | None | None | None | N |
| S/W | 0.8812 | likely_pathogenic | 0.9327 | pathogenic | -1.053 | Destabilizing | 0.995 | D | 0.837 | deleterious | None | None | None | None | N |
| S/Y | 0.6865 | likely_pathogenic | 0.7967 | pathogenic | -0.603 | Destabilizing | 0.893 | D | 0.811 | deleterious | 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.