Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 10008 | 30247;30248;30249 | chr2:178704348;178704347;178704346 | chr2:179569075;179569074;179569073 |
| N2AB | 9691 | 29296;29297;29298 | chr2:178704348;178704347;178704346 | chr2:179569075;179569074;179569073 |
| N2A | 8764 | 26515;26516;26517 | chr2:178704348;178704347;178704346 | chr2:179569075;179569074;179569073 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| M/R | None | None | 0.784 | None | 0.633 | 0.597 | 0.712006405308 | 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 |
| M/T | None | None | 0.6 | None | 0.599 | 0.489 | 0.816296579346 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 6.07533E-05 | 0 |
| M/V | rs1553877757  |
None | 0.065 | None | 0.363 | 0.226 | 0.427024044652 | 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 |
| M/V | rs1553877757 |
None | 0.065 | None | 0.363 | 0.226 | 0.427024044652 | gnomAD-4.0.0 | 3.04463E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.61471E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| M/A | 0.9246 | likely_pathogenic | 0.9538 | pathogenic | -2.258 | Highly Destabilizing | 0.3 | N | 0.554 | neutral | None | None | None | None | N |
| M/C | 0.9821 | likely_pathogenic | 0.9898 | pathogenic | -2.155 | Highly Destabilizing | 0.981 | D | 0.726 | prob.delet. | None | None | None | None | N |
| M/D | 0.9993 | likely_pathogenic | 0.9996 | pathogenic | -1.838 | Destabilizing | 0.936 | D | 0.751 | deleterious | None | None | None | None | N |
| M/E | 0.9918 | likely_pathogenic | 0.9953 | pathogenic | -1.581 | Destabilizing | 0.936 | D | 0.709 | prob.delet. | None | None | None | None | N |
| M/F | 0.5727 | likely_pathogenic | 0.5727 | pathogenic | -0.657 | Destabilizing | 0.003 | N | 0.245 | neutral | None | None | None | None | N |
| M/G | 0.9883 | likely_pathogenic | 0.9935 | pathogenic | -2.788 | Highly Destabilizing | 0.828 | D | 0.726 | prob.delet. | None | None | None | None | N |
| M/H | 0.9904 | likely_pathogenic | 0.9942 | pathogenic | -2.399 | Highly Destabilizing | 0.981 | D | 0.792 | deleterious | None | None | None | None | N |
| M/I | 0.6761 | likely_pathogenic | 0.767 | pathogenic | -0.728 | Destabilizing | 0.139 | N | 0.369 | neutral | None | None | None | None | N |
| M/K | 0.9524 | likely_pathogenic | 0.9715 | pathogenic | -1.278 | Destabilizing | 0.6 | D | 0.617 | neutral | None | None | None | None | N |
| M/L | 0.176 | likely_benign | 0.2221 | benign | -0.728 | Destabilizing | 0.001 | N | 0.189 | neutral | None | None | None | None | N |
| M/N | 0.9947 | likely_pathogenic | 0.9971 | pathogenic | -1.683 | Destabilizing | 0.936 | D | 0.726 | prob.delet. | None | None | None | None | N |
| M/P | 0.9988 | likely_pathogenic | 0.9994 | pathogenic | -1.22 | Destabilizing | 0.936 | D | 0.74 | deleterious | None | None | None | None | N |
| M/Q | 0.959 | likely_pathogenic | 0.972 | pathogenic | -1.312 | Destabilizing | 0.936 | D | 0.578 | neutral | None | None | None | None | N |
| M/R | 0.9577 | likely_pathogenic | 0.9745 | pathogenic | -1.484 | Destabilizing | 0.784 | D | 0.633 | neutral | None | None | None | None | N |
| M/S | 0.9827 | likely_pathogenic | 0.9904 | pathogenic | -2.301 | Highly Destabilizing | 0.665 | D | 0.631 | neutral | None | None | None | None | N |
| M/T | 0.9398 | likely_pathogenic | 0.9693 | pathogenic | -1.899 | Destabilizing | 0.6 | D | 0.599 | neutral | None | None | None | None | N |
| M/V | 0.2304 | likely_benign | 0.2194 | benign | -1.22 | Destabilizing | 0.065 | N | 0.363 | neutral | None | None | None | None | N |
| M/W | 0.9718 | likely_pathogenic | 0.9816 | pathogenic | -0.969 | Destabilizing | 0.981 | D | 0.729 | prob.delet. | None | None | None | None | N |
| M/Y | 0.9552 | likely_pathogenic | 0.9678 | pathogenic | -0.963 | Destabilizing | 0.329 | N | 0.621 | 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.