Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 1727 | 5404;5405;5406 | chr2:178776685;178776684;178776683 | chr2:179641412;179641411;179641410 |
| N2AB | 1727 | 5404;5405;5406 | chr2:178776685;178776684;178776683 | chr2:179641412;179641411;179641410 |
| N2A | 1727 | 5404;5405;5406 | chr2:178776685;178776684;178776683 | chr2:179641412;179641411;179641410 |
| N2B | 1681 | 5266;5267;5268 | chr2:178776685;178776684;178776683 | chr2:179641412;179641411;179641410 |
| Novex-1 | 1681 | 5266;5267;5268 | chr2:178776685;178776684;178776683 | chr2:179641412;179641411;179641410 |
| Novex-2 | 1681 | 5266;5267;5268 | chr2:178776685;178776684;178776683 | chr2:179641412;179641411;179641410 |
| Novex-3 | 1727 | 5404;5405;5406 | chr2:178776685;178776684;178776683 | chr2:179641412;179641411;179641410 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/I | rs2154346254  |
None | 1.0 | N | 0.73 | 0.573 | 0.67736492023 | gnomAD-4.0.0 | 2.05229E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.52131E-05 | None | 0 | 0 | 1.79859E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.4793 | ambiguous | 0.4909 | ambiguous | -0.741 | Destabilizing | 0.999 | D | 0.501 | neutral | N | 0.487269977 | None | None | N |
| T/C | 0.9257 | likely_pathogenic | 0.9209 | pathogenic | -0.391 | Destabilizing | 1.0 | D | 0.691 | prob.neutral | None | None | None | None | N |
| T/D | 0.9746 | likely_pathogenic | 0.9767 | pathogenic | -0.157 | Destabilizing | 1.0 | D | 0.731 | prob.delet. | None | None | None | None | N |
| T/E | 0.952 | likely_pathogenic | 0.9535 | pathogenic | -0.065 | Destabilizing | 1.0 | D | 0.733 | prob.delet. | None | None | None | None | N |
| T/F | 0.8393 | likely_pathogenic | 0.8594 | pathogenic | -0.516 | Destabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | N |
| T/G | 0.8661 | likely_pathogenic | 0.8796 | pathogenic | -1.082 | Destabilizing | 1.0 | D | 0.694 | prob.neutral | None | None | None | None | N |
| T/H | 0.8777 | likely_pathogenic | 0.8801 | pathogenic | -1.214 | Destabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | N |
| T/I | 0.6237 | likely_pathogenic | 0.6233 | pathogenic | 0.106 | Stabilizing | 1.0 | D | 0.73 | prob.delet. | N | 0.443152398 | None | None | N |
| T/K | 0.9285 | likely_pathogenic | 0.9341 | pathogenic | -0.553 | Destabilizing | 1.0 | D | 0.733 | prob.delet. | N | 0.50162039 | None | None | N |
| T/L | 0.4171 | ambiguous | 0.4531 | ambiguous | 0.106 | Stabilizing | 0.999 | D | 0.646 | neutral | None | None | None | None | N |
| T/M | 0.3505 | ambiguous | 0.3837 | ambiguous | 0.092 | Stabilizing | 1.0 | D | 0.697 | prob.neutral | None | None | None | None | N |
| T/N | 0.6833 | likely_pathogenic | 0.7249 | pathogenic | -0.731 | Destabilizing | 1.0 | D | 0.667 | neutral | None | None | None | None | N |
| T/P | 0.8617 | likely_pathogenic | 0.9053 | pathogenic | -0.143 | Destabilizing | 1.0 | D | 0.734 | prob.delet. | D | 0.560421048 | None | None | N |
| T/Q | 0.8457 | likely_pathogenic | 0.8536 | pathogenic | -0.658 | Destabilizing | 1.0 | D | 0.75 | deleterious | None | None | None | None | N |
| T/R | 0.9176 | likely_pathogenic | 0.9238 | pathogenic | -0.546 | Destabilizing | 1.0 | D | 0.737 | prob.delet. | N | 0.500828249 | None | None | N |
| T/S | 0.4713 | ambiguous | 0.5102 | ambiguous | -1.03 | Destabilizing | 0.999 | D | 0.487 | neutral | N | 0.485101768 | None | None | N |
| T/V | 0.4705 | ambiguous | 0.455 | ambiguous | -0.143 | Destabilizing | 0.999 | D | 0.552 | neutral | None | None | None | None | N |
| T/W | 0.969 | likely_pathogenic | 0.9714 | pathogenic | -0.577 | Destabilizing | 1.0 | D | 0.738 | prob.delet. | None | None | None | None | N |
| T/Y | 0.9039 | likely_pathogenic | 0.9132 | pathogenic | -0.281 | Destabilizing | 1.0 | D | 0.767 | 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.