Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26842 | 80749;80750;80751 | chr2:178565608;178565607;178565606 | chr2:179430335;179430334;179430333 |
| N2AB | 25201 | 75826;75827;75828 | chr2:178565608;178565607;178565606 | chr2:179430335;179430334;179430333 |
| N2A | 24274 | 73045;73046;73047 | chr2:178565608;178565607;178565606 | chr2:179430335;179430334;179430333 |
| N2B | 17777 | 53554;53555;53556 | chr2:178565608;178565607;178565606 | chr2:179430335;179430334;179430333 |
| Novex-1 | 17902 | 53929;53930;53931 | chr2:178565608;178565607;178565606 | chr2:179430335;179430334;179430333 |
| Novex-2 | 17969 | 54130;54131;54132 | chr2:178565608;178565607;178565606 | chr2:179430335;179430334;179430333 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/D | rs1333464688  |
None | 0.408 | N | 0.73 | 0.312 | 0.399304321381 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/D | rs1333464688 |
None | 0.408 | N | 0.73 | 0.312 | 0.399304321381 | gnomAD-4.0.0 | 3.71864E-06 | None | None | None | None | N | None | 6.67699E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 8.47712E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.1771 | likely_benign | 0.1817 | benign | -0.224 | Destabilizing | 0.084 | N | 0.45 | neutral | N | 0.509029915 | None | None | N |
| G/C | 0.2963 | likely_benign | 0.3508 | ambiguous | -0.886 | Destabilizing | 0.913 | D | 0.757 | deleterious | D | 0.542391269 | None | None | N |
| G/D | 0.2395 | likely_benign | 0.2489 | benign | -0.104 | Destabilizing | 0.408 | N | 0.73 | prob.delet. | N | 0.476944397 | None | None | N |
| G/E | 0.3234 | likely_benign | 0.3209 | benign | -0.248 | Destabilizing | 0.709 | D | 0.717 | prob.delet. | None | None | None | None | N |
| G/F | 0.69 | likely_pathogenic | 0.6878 | pathogenic | -0.882 | Destabilizing | 0.974 | D | 0.777 | deleterious | None | None | None | None | N |
| G/H | 0.4042 | ambiguous | 0.4167 | ambiguous | -0.436 | Destabilizing | 0.974 | D | 0.752 | deleterious | None | None | None | None | N |
| G/I | 0.5332 | ambiguous | 0.5402 | ambiguous | -0.323 | Destabilizing | 0.83 | D | 0.765 | deleterious | None | None | None | None | N |
| G/K | 0.4689 | ambiguous | 0.48 | ambiguous | -0.61 | Destabilizing | 0.709 | D | 0.729 | prob.delet. | None | None | None | None | N |
| G/L | 0.5661 | likely_pathogenic | 0.5666 | pathogenic | -0.323 | Destabilizing | 0.83 | D | 0.733 | prob.delet. | None | None | None | None | N |
| G/M | 0.5735 | likely_pathogenic | 0.5748 | pathogenic | -0.478 | Destabilizing | 0.991 | D | 0.757 | deleterious | None | None | None | None | N |
| G/N | 0.2088 | likely_benign | 0.226 | benign | -0.32 | Destabilizing | 0.041 | N | 0.349 | neutral | None | None | None | None | N |
| G/P | 0.923 | likely_pathogenic | 0.9289 | pathogenic | -0.257 | Destabilizing | 0.646 | D | 0.734 | prob.delet. | None | None | None | None | N |
| G/Q | 0.3775 | ambiguous | 0.38 | ambiguous | -0.529 | Destabilizing | 0.83 | D | 0.74 | deleterious | None | None | None | None | N |
| G/R | 0.3743 | ambiguous | 0.3862 | ambiguous | -0.276 | Destabilizing | 0.786 | D | 0.715 | prob.delet. | N | 0.489697892 | None | None | N |
| G/S | 0.1074 | likely_benign | 0.1115 | benign | -0.542 | Destabilizing | 0.001 | N | 0.299 | neutral | D | 0.527047931 | None | None | N |
| G/T | 0.215 | likely_benign | 0.2296 | benign | -0.596 | Destabilizing | 0.709 | D | 0.709 | prob.delet. | None | None | None | None | N |
| G/V | 0.3805 | ambiguous | 0.4019 | ambiguous | -0.257 | Destabilizing | 0.786 | D | 0.726 | prob.delet. | D | 0.530363401 | None | None | N |
| G/W | 0.5751 | likely_pathogenic | 0.6021 | pathogenic | -1.045 | Destabilizing | 0.991 | D | 0.739 | prob.delet. | None | None | None | None | N |
| G/Y | 0.537 | ambiguous | 0.546 | ambiguous | -0.679 | Destabilizing | 0.974 | 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.