Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24127 | 72604;72605;72606 | chr2:178573753;178573752;178573751 | chr2:179438480;179438479;179438478 |
| N2AB | 22486 | 67681;67682;67683 | chr2:178573753;178573752;178573751 | chr2:179438480;179438479;179438478 |
| N2A | 21559 | 64900;64901;64902 | chr2:178573753;178573752;178573751 | chr2:179438480;179438479;179438478 |
| N2B | 15062 | 45409;45410;45411 | chr2:178573753;178573752;178573751 | chr2:179438480;179438479;179438478 |
| Novex-1 | 15187 | 45784;45785;45786 | chr2:178573753;178573752;178573751 | chr2:179438480;179438479;179438478 |
| Novex-2 | 15254 | 45985;45986;45987 | chr2:178573753;178573752;178573751 | chr2:179438480;179438479;179438478 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/K | rs149763294  |
-0.979 | 0.999 | N | 0.632 | 0.311 | None | gnomAD-2.1.1 | 4.89425E-04 | None | None | None | None | N | None | 1.8046E-03 | 9.08147E-04 | None | 1.564E-03 | 0 | None | 0 | None | 4.22E-05 | 2.93526E-04 | 7.75675E-04 |
| E/K | rs149763294 |
-0.979 | 0.999 | N | 0.632 | 0.311 | None | gnomAD-3.1.2 | 8.2849E-04 | None | None | None | None | N | None | 1.8826E-03 | 1.31044E-03 | 0 | 1.72911E-03 | 0 | None | 0 | 0 | 3.08878E-04 | 0 | 4.78469E-04 |
| E/K | rs149763294 |
-0.979 | 0.999 | N | 0.632 | 0.311 | None | 1000 genomes | 9.98403E-04 | None | None | None | None | N | None | 1.5E-03 | 2.9E-03 | None | None | 0 | 1E-03 | None | None | None | 0 | None |
| E/K | rs149763294 |
-0.979 | 0.999 | N | 0.632 | 0.311 | None | gnomAD-4.0.0 | 2.84901E-04 | None | None | None | None | N | None | 1.80633E-03 | 9.49078E-04 | None | 1.47726E-03 | 0 | None | 0 | 1.19007E-03 | 1.56915E-04 | 0 | 5.72625E-04 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/A | 0.0975 | likely_benign | 0.1102 | benign | -0.445 | Destabilizing | 0.999 | D | 0.711 | prob.delet. | N | 0.468425623 | None | None | N |
| E/C | 0.676 | likely_pathogenic | 0.7131 | pathogenic | -0.375 | Destabilizing | 1.0 | D | 0.824 | deleterious | None | None | None | None | N |
| E/D | 0.1798 | likely_benign | 0.212 | benign | -0.87 | Destabilizing | 0.999 | D | 0.565 | neutral | N | 0.471890002 | None | None | N |
| E/F | 0.6844 | likely_pathogenic | 0.7358 | pathogenic | 0.457 | Stabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| E/G | 0.1234 | likely_benign | 0.1582 | benign | -0.839 | Destabilizing | 1.0 | D | 0.763 | deleterious | N | 0.476757104 | None | None | N |
| E/H | 0.4001 | ambiguous | 0.462 | ambiguous | 0.339 | Stabilizing | 1.0 | D | 0.666 | neutral | None | None | None | None | N |
| E/I | 0.249 | likely_benign | 0.2924 | benign | 0.636 | Stabilizing | 1.0 | D | 0.82 | deleterious | None | None | None | None | N |
| E/K | 0.1086 | likely_benign | 0.1345 | benign | -0.323 | Destabilizing | 0.999 | D | 0.632 | neutral | N | 0.509021452 | None | None | N |
| E/L | 0.2957 | likely_benign | 0.3542 | ambiguous | 0.636 | Stabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| E/M | 0.3289 | likely_benign | 0.3768 | ambiguous | 0.833 | Stabilizing | 1.0 | D | 0.8 | deleterious | None | None | None | None | N |
| E/N | 0.2574 | likely_benign | 0.3125 | benign | -1.02 | Destabilizing | 1.0 | D | 0.693 | prob.neutral | None | None | None | None | N |
| E/P | 0.7901 | likely_pathogenic | 0.8297 | pathogenic | 0.298 | Stabilizing | 1.0 | D | 0.726 | prob.delet. | None | None | None | None | N |
| E/Q | 0.0954 | likely_benign | 0.1101 | benign | -0.81 | Destabilizing | 1.0 | D | 0.656 | neutral | N | 0.463307805 | None | None | N |
| E/R | 0.1717 | likely_benign | 0.2036 | benign | 0.037 | Stabilizing | 1.0 | D | 0.689 | prob.neutral | None | None | None | None | N |
| E/S | 0.1441 | likely_benign | 0.1695 | benign | -1.301 | Destabilizing | 0.999 | D | 0.676 | prob.neutral | None | None | None | None | N |
| E/T | 0.1611 | likely_benign | 0.1928 | benign | -0.955 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | None | None | None | None | N |
| E/V | 0.141 | likely_benign | 0.1579 | benign | 0.298 | Stabilizing | 1.0 | D | 0.771 | deleterious | N | 0.482912286 | None | None | N |
| E/W | 0.8848 | likely_pathogenic | 0.9114 | pathogenic | 0.741 | Stabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| E/Y | 0.5549 | ambiguous | 0.6033 | pathogenic | 0.731 | Stabilizing | 1.0 | D | 0.795 | 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.