Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17638 | 53137;53138;53139 | chr2:178607875;178607874;178607873 | chr2:179472602;179472601;179472600 |
| N2AB | 15997 | 48214;48215;48216 | chr2:178607875;178607874;178607873 | chr2:179472602;179472601;179472600 |
| N2A | 15070 | 45433;45434;45435 | chr2:178607875;178607874;178607873 | chr2:179472602;179472601;179472600 |
| N2B | 8573 | 25942;25943;25944 | chr2:178607875;178607874;178607873 | chr2:179472602;179472601;179472600 |
| Novex-1 | 8698 | 26317;26318;26319 | chr2:178607875;178607874;178607873 | chr2:179472602;179472601;179472600 |
| Novex-2 | 8765 | 26518;26519;26520 | chr2:178607875;178607874;178607873 | chr2:179472602;179472601;179472600 |
| 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/T | rs573873239  |
-1.286 | 1.0 | N | 0.733 | 0.354 | 0.286848849266 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 9.8E-05 | None | 0 | 0 | 0 |
| A/T | rs573873239 |
-1.286 | 1.0 | N | 0.733 | 0.354 | 0.286848849266 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.06954E-04 | 0 |
| A/T | rs573873239 |
-1.286 | 1.0 | N | 0.733 | 0.354 | 0.286848849266 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 0 | 0 | None | None | None | 1E-03 | None |
| A/T | rs573873239 |
-1.286 | 1.0 | N | 0.733 | 0.354 | 0.286848849266 | gnomAD-4.0.0 | 2.47978E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.47938E-07 | 3.2941E-05 | 0 |
| A/V | None | None | 1.0 | N | 0.668 | 0.372 | 0.399740851666 | gnomAD-4.0.0 | 6.84496E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99764E-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 | 0.5686 | likely_pathogenic | 0.6168 | pathogenic | -0.923 | Destabilizing | 1.0 | D | 0.702 | prob.neutral | None | None | None | None | N |
| A/D | 0.7864 | likely_pathogenic | 0.7794 | pathogenic | -1.253 | Destabilizing | 1.0 | D | 0.752 | deleterious | N | 0.471613149 | None | None | N |
| A/E | 0.6887 | likely_pathogenic | 0.6954 | pathogenic | -1.2 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| A/F | 0.7046 | likely_pathogenic | 0.6984 | pathogenic | -0.845 | Destabilizing | 1.0 | D | 0.732 | prob.delet. | None | None | None | None | N |
| A/G | 0.3377 | likely_benign | 0.3399 | benign | -1.257 | Destabilizing | 1.0 | D | 0.551 | neutral | N | 0.48040599 | None | None | N |
| A/H | 0.7964 | likely_pathogenic | 0.8067 | pathogenic | -1.489 | Destabilizing | 1.0 | D | 0.687 | prob.neutral | None | None | None | None | N |
| A/I | 0.6268 | likely_pathogenic | 0.6337 | pathogenic | -0.065 | Destabilizing | 1.0 | D | 0.776 | deleterious | None | None | None | None | N |
| A/K | 0.8076 | likely_pathogenic | 0.8129 | pathogenic | -1.17 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | N |
| A/L | 0.4894 | ambiguous | 0.5076 | ambiguous | -0.065 | Destabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | N |
| A/M | 0.4947 | ambiguous | 0.5035 | ambiguous | -0.123 | Destabilizing | 1.0 | D | 0.687 | prob.neutral | None | None | None | None | N |
| A/N | 0.6403 | likely_pathogenic | 0.6503 | pathogenic | -1.059 | Destabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | N |
| A/P | 0.9593 | likely_pathogenic | 0.9513 | pathogenic | -0.3 | Destabilizing | 1.0 | D | 0.767 | deleterious | N | 0.49338706 | None | None | N |
| A/Q | 0.6136 | likely_pathogenic | 0.6351 | pathogenic | -1.08 | Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | N |
| A/R | 0.6944 | likely_pathogenic | 0.7076 | pathogenic | -0.979 | Destabilizing | 1.0 | D | 0.768 | deleterious | None | None | None | None | N |
| A/S | 0.1773 | likely_benign | 0.1866 | benign | -1.486 | Destabilizing | 1.0 | D | 0.569 | neutral | N | 0.47122636 | None | None | N |
| A/T | 0.2386 | likely_benign | 0.2461 | benign | -1.315 | Destabilizing | 1.0 | D | 0.733 | prob.delet. | N | 0.437588215 | None | None | N |
| A/V | 0.3407 | ambiguous | 0.3527 | ambiguous | -0.3 | Destabilizing | 1.0 | D | 0.668 | neutral | N | 0.470746357 | None | None | N |
| A/W | 0.9261 | likely_pathogenic | 0.9234 | pathogenic | -1.334 | Destabilizing | 1.0 | D | 0.682 | prob.neutral | None | None | None | None | N |
| A/Y | 0.8141 | likely_pathogenic | 0.8186 | pathogenic | -0.842 | Destabilizing | 1.0 | D | 0.735 | prob.delet. | 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.