Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15809 | 47650;47651;47652 | chr2:178617926;178617925;178617924 | chr2:179482653;179482652;179482651 |
| N2AB | 14168 | 42727;42728;42729 | chr2:178617926;178617925;178617924 | chr2:179482653;179482652;179482651 |
| N2A | 13241 | 39946;39947;39948 | chr2:178617926;178617925;178617924 | chr2:179482653;179482652;179482651 |
| N2B | 6744 | 20455;20456;20457 | chr2:178617926;178617925;178617924 | chr2:179482653;179482652;179482651 |
| Novex-1 | 6869 | 20830;20831;20832 | chr2:178617926;178617925;178617924 | chr2:179482653;179482652;179482651 |
| Novex-2 | 6936 | 21031;21032;21033 | chr2:178617926;178617925;178617924 | chr2:179482653;179482652;179482651 |
| 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/T | None | None | 0.81 | N | 0.347 | 0.205 | 0.691436012024 | gnomAD-4.0.0 | 1.59332E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86279E-06 | 0 | 0 |
| M/V | None | None | 0.81 | N | 0.271 | 0.195 | 0.3691244813 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-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 | 0.3924 | ambiguous | 0.3605 | ambiguous | -1.028 | Destabilizing | 0.072 | N | 0.219 | neutral | None | None | None | None | N |
| M/C | 0.7802 | likely_pathogenic | 0.7212 | pathogenic | -0.914 | Destabilizing | 0.997 | D | 0.456 | neutral | None | None | None | None | N |
| M/D | 0.8609 | likely_pathogenic | 0.8337 | pathogenic | 0.103 | Stabilizing | 0.932 | D | 0.419 | neutral | None | None | None | None | N |
| M/E | 0.5621 | ambiguous | 0.5419 | ambiguous | 0.111 | Stabilizing | 0.739 | D | 0.32 | neutral | None | None | None | None | N |
| M/F | 0.3967 | ambiguous | 0.3863 | ambiguous | -0.253 | Destabilizing | 0.965 | D | 0.365 | neutral | None | None | None | None | N |
| M/G | 0.6375 | likely_pathogenic | 0.5777 | pathogenic | -1.305 | Destabilizing | 0.85 | D | 0.36 | neutral | None | None | None | None | N |
| M/H | 0.6475 | likely_pathogenic | 0.6098 | pathogenic | -0.468 | Destabilizing | 0.041 | N | 0.35 | neutral | None | None | None | None | N |
| M/I | 0.4638 | ambiguous | 0.4549 | ambiguous | -0.348 | Destabilizing | 0.897 | D | 0.283 | neutral | N | 0.441706333 | None | None | N |
| M/K | 0.2556 | likely_benign | 0.2436 | benign | -0.024 | Destabilizing | 0.681 | D | 0.341 | neutral | N | 0.463977475 | None | None | N |
| M/L | 0.1472 | likely_benign | 0.1406 | benign | -0.348 | Destabilizing | 0.651 | D | 0.209 | neutral | N | 0.422022896 | None | None | N |
| M/N | 0.6459 | likely_pathogenic | 0.5951 | pathogenic | 0.051 | Stabilizing | 0.932 | D | 0.421 | neutral | None | None | None | None | N |
| M/P | 0.977 | likely_pathogenic | 0.9688 | pathogenic | -0.545 | Destabilizing | 0.965 | D | 0.496 | neutral | None | None | None | None | N |
| M/Q | 0.2968 | likely_benign | 0.2786 | benign | -0.013 | Destabilizing | 0.348 | N | 0.167 | neutral | None | None | None | None | N |
| M/R | 0.2948 | likely_benign | 0.2783 | benign | 0.374 | Stabilizing | 0.912 | D | 0.346 | neutral | N | 0.468649117 | None | None | N |
| M/S | 0.4914 | ambiguous | 0.4389 | ambiguous | -0.514 | Destabilizing | 0.739 | D | 0.337 | neutral | None | None | None | None | N |
| M/T | 0.2538 | likely_benign | 0.2377 | benign | -0.388 | Destabilizing | 0.81 | D | 0.347 | neutral | N | 0.445535419 | None | None | N |
| M/V | 0.1278 | likely_benign | 0.1224 | benign | -0.545 | Destabilizing | 0.81 | D | 0.271 | neutral | N | 0.428934534 | None | None | N |
| M/W | 0.8075 | likely_pathogenic | 0.7893 | pathogenic | -0.24 | Destabilizing | 0.999 | D | 0.436 | neutral | None | None | None | None | N |
| M/Y | 0.7086 | likely_pathogenic | 0.6732 | pathogenic | -0.164 | Destabilizing | 0.932 | D | 0.459 | 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.