Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15471 | 46636;46637;46638 | chr2:178620006;178620005;178620004 | chr2:179484733;179484732;179484731 |
| N2AB | 13830 | 41713;41714;41715 | chr2:178620006;178620005;178620004 | chr2:179484733;179484732;179484731 |
| N2A | 12903 | 38932;38933;38934 | chr2:178620006;178620005;178620004 | chr2:179484733;179484732;179484731 |
| N2B | 6406 | 19441;19442;19443 | chr2:178620006;178620005;178620004 | chr2:179484733;179484732;179484731 |
| Novex-1 | 6531 | 19816;19817;19818 | chr2:178620006;178620005;178620004 | chr2:179484733;179484732;179484731 |
| Novex-2 | 6598 | 20017;20018;20019 | chr2:178620006;178620005;178620004 | chr2:179484733;179484732;179484731 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/T | None | None | 1.0 | D | 0.679 | 0.642 | 0.726466338024 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 6.33473E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/V | rs1268534567  |
0.277 | 1.0 | D | 0.585 | 0.684 | 0.765948534306 | gnomAD-2.1.1 | 4.08E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 9.04E-06 | 0 |
| A/V | rs1268534567 |
0.277 | 1.0 | D | 0.585 | 0.684 | 0.765948534306 | gnomAD-3.1.2 | 6.59E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| A/V | rs1268534567 |
0.277 | 1.0 | D | 0.585 | 0.684 | 0.765948534306 | gnomAD-4.0.0 | 2.57302E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.80141E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.9094 | likely_pathogenic | 0.9481 | pathogenic | -0.94 | Destabilizing | 1.0 | D | 0.715 | prob.delet. | None | None | None | None | N |
| A/D | 0.9948 | likely_pathogenic | 0.9972 | pathogenic | -1.718 | Destabilizing | 1.0 | D | 0.809 | deleterious | D | 0.750241069 | None | None | N |
| A/E | 0.9946 | likely_pathogenic | 0.9963 | pathogenic | -1.604 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | N |
| A/F | 0.9931 | likely_pathogenic | 0.9941 | pathogenic | -0.732 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| A/G | 0.2548 | likely_benign | 0.3297 | benign | -1.35 | Destabilizing | 1.0 | D | 0.523 | neutral | D | 0.662263992 | None | None | N |
| A/H | 0.9953 | likely_pathogenic | 0.997 | pathogenic | -1.687 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| A/I | 0.9953 | likely_pathogenic | 0.9973 | pathogenic | 0.08 | Stabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| A/K | 0.9959 | likely_pathogenic | 0.9976 | pathogenic | -1.151 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | N |
| A/L | 0.9775 | likely_pathogenic | 0.983 | pathogenic | 0.08 | Stabilizing | 1.0 | D | 0.744 | deleterious | None | None | None | None | N |
| A/M | 0.9881 | likely_pathogenic | 0.9927 | pathogenic | -0.051 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| A/N | 0.9894 | likely_pathogenic | 0.9945 | pathogenic | -1.203 | Destabilizing | 1.0 | D | 0.832 | deleterious | None | None | None | None | N |
| A/P | 0.9974 | likely_pathogenic | 0.9982 | pathogenic | -0.218 | Destabilizing | 1.0 | D | 0.815 | deleterious | D | 0.747323707 | None | None | N |
| A/Q | 0.9835 | likely_pathogenic | 0.9886 | pathogenic | -1.144 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| A/R | 0.9841 | likely_pathogenic | 0.988 | pathogenic | -1.082 | Destabilizing | 1.0 | D | 0.824 | deleterious | None | None | None | None | N |
| A/S | 0.3954 | ambiguous | 0.525 | ambiguous | -1.627 | Destabilizing | 1.0 | D | 0.549 | neutral | D | 0.662816275 | None | None | N |
| A/T | 0.9037 | likely_pathogenic | 0.9567 | pathogenic | -1.398 | Destabilizing | 1.0 | D | 0.679 | prob.neutral | D | 0.662993003 | None | None | N |
| A/V | 0.9621 | likely_pathogenic | 0.9789 | pathogenic | -0.218 | Destabilizing | 1.0 | D | 0.585 | neutral | D | 0.750409533 | None | None | N |
| A/W | 0.9992 | likely_pathogenic | 0.9994 | pathogenic | -1.37 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | N |
| A/Y | 0.9964 | likely_pathogenic | 0.997 | pathogenic | -0.827 | Destabilizing | 1.0 | D | 0.831 | 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.