Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2655 | 8188;8189;8190 | chr2:178771364;178771363;178771362 | chr2:179636091;179636090;179636089 |
| N2AB | 2655 | 8188;8189;8190 | chr2:178771364;178771363;178771362 | chr2:179636091;179636090;179636089 |
| N2A | 2655 | 8188;8189;8190 | chr2:178771364;178771363;178771362 | chr2:179636091;179636090;179636089 |
| N2B | 2609 | 8050;8051;8052 | chr2:178771364;178771363;178771362 | chr2:179636091;179636090;179636089 |
| Novex-1 | 2609 | 8050;8051;8052 | chr2:178771364;178771363;178771362 | chr2:179636091;179636090;179636089 |
| Novex-2 | 2609 | 8050;8051;8052 | chr2:178771364;178771363;178771362 | chr2:179636091;179636090;179636089 |
| Novex-3 | 2655 | 8188;8189;8190 | chr2:178771364;178771363;178771362 | chr2:179636091;179636090;179636089 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/Y | rs1379744895  |
-0.214 | 0.997 | D | 0.698 | 0.291 | 0.423119698836 | gnomAD-2.1.1 | 3.98E-06 | None | None | None | None | N | None | 0 | 2.89E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| D/Y | rs1379744895 |
-0.214 | 0.997 | D | 0.698 | 0.291 | 0.423119698836 | gnomAD-4.0.0 | 1.59064E-06 | None | None | None | None | N | None | 0 | 2.28676E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.2097 | likely_benign | 0.2106 | benign | -0.56 | Destabilizing | 0.698 | D | 0.604 | neutral | N | 0.488209842 | None | None | N |
| D/C | 0.5851 | likely_pathogenic | 0.5903 | pathogenic | -0.153 | Destabilizing | 0.998 | D | 0.689 | prob.neutral | None | None | None | None | N |
| D/E | 0.1783 | likely_benign | 0.1839 | benign | -0.374 | Destabilizing | 0.014 | N | 0.194 | neutral | N | 0.337410572 | None | None | N |
| D/F | 0.6753 | likely_pathogenic | 0.6665 | pathogenic | -0.233 | Destabilizing | 0.998 | D | 0.698 | prob.neutral | None | None | None | None | N |
| D/G | 0.1354 | likely_benign | 0.1346 | benign | -0.822 | Destabilizing | 0.698 | D | 0.577 | neutral | N | 0.357572103 | None | None | N |
| D/H | 0.359 | ambiguous | 0.327 | benign | -0.24 | Destabilizing | 0.992 | D | 0.637 | neutral | D | 0.525924131 | None | None | N |
| D/I | 0.6329 | likely_pathogenic | 0.626 | pathogenic | 0.105 | Stabilizing | 0.978 | D | 0.725 | prob.delet. | None | None | None | None | N |
| D/K | 0.422 | ambiguous | 0.3835 | ambiguous | 0.056 | Stabilizing | 0.754 | D | 0.602 | neutral | None | None | None | None | N |
| D/L | 0.5088 | ambiguous | 0.5068 | ambiguous | 0.105 | Stabilizing | 0.956 | D | 0.725 | prob.delet. | None | None | None | None | N |
| D/M | 0.712 | likely_pathogenic | 0.721 | pathogenic | 0.357 | Stabilizing | 0.998 | D | 0.686 | prob.neutral | None | None | None | None | N |
| D/N | 0.0904 | likely_benign | 0.0939 | benign | -0.38 | Destabilizing | 0.032 | N | 0.241 | neutral | N | 0.349754893 | None | None | N |
| D/P | 0.9528 | likely_pathogenic | 0.929 | pathogenic | -0.094 | Destabilizing | 0.978 | D | 0.67 | neutral | None | None | None | None | N |
| D/Q | 0.3851 | ambiguous | 0.3729 | ambiguous | -0.302 | Destabilizing | 0.915 | D | 0.593 | neutral | None | None | None | None | N |
| D/R | 0.4552 | ambiguous | 0.4101 | ambiguous | 0.262 | Stabilizing | 0.956 | D | 0.691 | prob.neutral | None | None | None | None | N |
| D/S | 0.1518 | likely_benign | 0.1549 | benign | -0.527 | Destabilizing | 0.754 | D | 0.477 | neutral | None | None | None | None | N |
| D/T | 0.4723 | ambiguous | 0.4664 | ambiguous | -0.312 | Destabilizing | 0.956 | D | 0.639 | neutral | None | None | None | None | N |
| D/V | 0.4224 | ambiguous | 0.4094 | ambiguous | -0.094 | Destabilizing | 0.942 | D | 0.723 | prob.delet. | D | 0.525924131 | None | None | N |
| D/W | 0.8966 | likely_pathogenic | 0.878 | pathogenic | 0.005 | Stabilizing | 0.998 | D | 0.675 | prob.neutral | None | None | None | None | N |
| D/Y | 0.272 | likely_benign | 0.2402 | benign | 0.025 | Stabilizing | 0.997 | D | 0.698 | prob.neutral | D | 0.525924131 | 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.