Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33601 | 101026;101027;101028 | chr2:178535814;178535813;178535812 | chr2:179400541;179400540;179400539 |
| N2AB | 31960 | 96103;96104;96105 | chr2:178535814;178535813;178535812 | chr2:179400541;179400540;179400539 |
| N2A | 31033 | 93322;93323;93324 | chr2:178535814;178535813;178535812 | chr2:179400541;179400540;179400539 |
| N2B | 24536 | 73831;73832;73833 | chr2:178535814;178535813;178535812 | chr2:179400541;179400540;179400539 |
| Novex-1 | 24661 | 74206;74207;74208 | chr2:178535814;178535813;178535812 | chr2:179400541;179400540;179400539 |
| Novex-2 | 24728 | 74407;74408;74409 | chr2:178535814;178535813;178535812 | chr2:179400541;179400540;179400539 |
| 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/C | rs771888313  |
-0.664 | 1.0 | N | 0.735 | 0.519 | 0.499600832404 | gnomAD-2.1.1 | 2.07E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 4.56E-05 | 0 |
| G/C | rs771888313 |
-0.664 | 1.0 | N | 0.735 | 0.519 | 0.499600832404 | gnomAD-3.1.2 | 6.61E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| G/C | rs771888313 |
-0.664 | 1.0 | N | 0.735 | 0.519 | 0.499600832404 | gnomAD-4.0.0 | 2.62129E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.49095E-05 | 0 | 1.61342E-05 |
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 | 0.3354 | likely_benign | 0.2662 | benign | -0.316 | Destabilizing | 0.999 | D | 0.645 | neutral | N | 0.471119211 | None | None | I |
| G/C | 0.6196 | likely_pathogenic | 0.4831 | ambiguous | -0.959 | Destabilizing | 1.0 | D | 0.735 | prob.delet. | N | 0.490571764 | None | None | I |
| G/D | 0.3922 | ambiguous | 0.3323 | benign | -0.64 | Destabilizing | 1.0 | D | 0.748 | deleterious | N | 0.45253345 | None | None | I |
| G/E | 0.4812 | ambiguous | 0.3959 | ambiguous | -0.792 | Destabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | I |
| G/F | 0.8663 | likely_pathogenic | 0.8292 | pathogenic | -1.086 | Destabilizing | 1.0 | D | 0.731 | prob.delet. | None | None | None | None | I |
| G/H | 0.7641 | likely_pathogenic | 0.6768 | pathogenic | -0.384 | Destabilizing | 1.0 | D | 0.707 | prob.neutral | None | None | None | None | I |
| G/I | 0.6525 | likely_pathogenic | 0.544 | ambiguous | -0.585 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | None | None | None | None | I |
| G/K | 0.7673 | likely_pathogenic | 0.6971 | pathogenic | -0.658 | Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | I |
| G/L | 0.8018 | likely_pathogenic | 0.7379 | pathogenic | -0.585 | Destabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | I |
| G/M | 0.7688 | likely_pathogenic | 0.6872 | pathogenic | -0.71 | Destabilizing | 1.0 | D | 0.731 | prob.delet. | None | None | None | None | I |
| G/N | 0.4038 | ambiguous | 0.3221 | benign | -0.348 | Destabilizing | 1.0 | D | 0.693 | prob.neutral | None | None | None | None | I |
| G/P | 0.9312 | likely_pathogenic | 0.8995 | pathogenic | -0.473 | Destabilizing | 1.0 | D | 0.725 | prob.delet. | None | None | None | None | I |
| G/Q | 0.6792 | likely_pathogenic | 0.5762 | pathogenic | -0.607 | Destabilizing | 1.0 | D | 0.74 | deleterious | None | None | None | None | I |
| G/R | 0.725 | likely_pathogenic | 0.6644 | pathogenic | -0.261 | Destabilizing | 1.0 | D | 0.72 | prob.delet. | N | 0.441143021 | None | None | I |
| G/S | 0.2221 | likely_benign | 0.1806 | benign | -0.493 | Destabilizing | 1.0 | D | 0.701 | prob.neutral | N | 0.470772495 | None | None | I |
| G/T | 0.3532 | ambiguous | 0.2694 | benign | -0.584 | Destabilizing | 1.0 | D | 0.744 | deleterious | None | None | None | None | I |
| G/V | 0.4714 | ambiguous | 0.3781 | ambiguous | -0.473 | Destabilizing | 1.0 | D | 0.756 | deleterious | N | 0.471119211 | None | None | I |
| G/W | 0.8337 | likely_pathogenic | 0.7835 | pathogenic | -1.165 | Destabilizing | 1.0 | D | 0.713 | prob.delet. | None | None | None | None | I |
| G/Y | 0.7807 | likely_pathogenic | 0.715 | pathogenic | -0.876 | Destabilizing | 1.0 | D | 0.729 | prob.delet. | None | None | None | None | I |
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.