Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15097 | 45514;45515;45516 | chr2:178621535;178621534;178621533 | chr2:179486262;179486261;179486260 |
| N2AB | 13456 | 40591;40592;40593 | chr2:178621535;178621534;178621533 | chr2:179486262;179486261;179486260 |
| N2A | 12529 | 37810;37811;37812 | chr2:178621535;178621534;178621533 | chr2:179486262;179486261;179486260 |
| N2B | 6032 | 18319;18320;18321 | chr2:178621535;178621534;178621533 | chr2:179486262;179486261;179486260 |
| Novex-1 | 6157 | 18694;18695;18696 | chr2:178621535;178621534;178621533 | chr2:179486262;179486261;179486260 |
| Novex-2 | 6224 | 18895;18896;18897 | chr2:178621535;178621534;178621533 | chr2:179486262;179486261;179486260 |
| 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/G | None | None | 0.645 | D | 0.475 | 0.446 | 0.435808882951 | gnomAD-4.0.0 | 6.84701E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99936E-07 | 0 | 0 |
| A/V | rs555033060  |
None | 0.024 | D | 0.249 | 0.366 | 0.523133305157 | gnomAD-4.0.0 | 6.84701E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99936E-07 | 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 | 0.5363 | ambiguous | 0.6691 | pathogenic | -0.829 | Destabilizing | 0.985 | D | 0.597 | neutral | None | None | None | None | N |
| A/D | 0.3413 | ambiguous | 0.4635 | ambiguous | -0.739 | Destabilizing | 0.864 | D | 0.747 | deleterious | D | 0.583400786 | None | None | N |
| A/E | 0.2419 | likely_benign | 0.3198 | benign | -0.807 | Destabilizing | 0.894 | D | 0.663 | neutral | None | None | None | None | N |
| A/F | 0.382 | ambiguous | 0.4638 | ambiguous | -0.919 | Destabilizing | 0.945 | D | 0.775 | deleterious | None | None | None | None | N |
| A/G | 0.1581 | likely_benign | 0.1943 | benign | -0.929 | Destabilizing | 0.645 | D | 0.475 | neutral | D | 0.62625688 | None | None | N |
| A/H | 0.542 | ambiguous | 0.6347 | pathogenic | -1.013 | Destabilizing | 0.995 | D | 0.747 | deleterious | None | None | None | None | N |
| A/I | 0.2368 | likely_benign | 0.3065 | benign | -0.332 | Destabilizing | 0.547 | D | 0.575 | neutral | None | None | None | None | N |
| A/K | 0.4268 | ambiguous | 0.5164 | ambiguous | -1.068 | Destabilizing | 0.894 | D | 0.669 | neutral | None | None | None | None | N |
| A/L | 0.2276 | likely_benign | 0.287 | benign | -0.332 | Destabilizing | 0.547 | D | 0.532 | neutral | None | None | None | None | N |
| A/M | 0.2222 | likely_benign | 0.2815 | benign | -0.305 | Destabilizing | 0.985 | D | 0.713 | prob.delet. | None | None | None | None | N |
| A/N | 0.2661 | likely_benign | 0.3616 | ambiguous | -0.758 | Destabilizing | 0.894 | D | 0.759 | deleterious | None | None | None | None | N |
| A/P | 0.6845 | likely_pathogenic | 0.8244 | pathogenic | -0.421 | Destabilizing | 0.928 | D | 0.721 | prob.delet. | D | 0.654775267 | None | None | N |
| A/Q | 0.3324 | likely_benign | 0.3987 | ambiguous | -0.941 | Destabilizing | 0.945 | D | 0.74 | deleterious | None | None | None | None | N |
| A/R | 0.3409 | ambiguous | 0.3982 | ambiguous | -0.675 | Destabilizing | 0.894 | D | 0.731 | prob.delet. | None | None | None | None | N |
| A/S | 0.0908 | likely_benign | 0.102 | benign | -1.1 | Destabilizing | 0.477 | N | 0.467 | neutral | N | 0.503792951 | None | None | N |
| A/T | 0.0807 | likely_benign | 0.0933 | benign | -1.073 | Destabilizing | 0.013 | N | 0.286 | neutral | N | 0.51028094 | None | None | N |
| A/V | 0.1376 | likely_benign | 0.1657 | benign | -0.421 | Destabilizing | 0.024 | N | 0.249 | neutral | D | 0.638863641 | None | None | N |
| A/W | 0.7858 | likely_pathogenic | 0.8509 | pathogenic | -1.196 | Destabilizing | 0.995 | D | 0.729 | prob.delet. | None | None | None | None | N |
| A/Y | 0.5436 | ambiguous | 0.6451 | pathogenic | -0.812 | Destabilizing | 0.945 | D | 0.779 | 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.