Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33435 | 100528;100529;100530 | chr2:178536444;178536443;178536442 | chr2:179401171;179401170;179401169 |
| N2AB | 31794 | 95605;95606;95607 | chr2:178536444;178536443;178536442 | chr2:179401171;179401170;179401169 |
| N2A | 30867 | 92824;92825;92826 | chr2:178536444;178536443;178536442 | chr2:179401171;179401170;179401169 |
| N2B | 24370 | 73333;73334;73335 | chr2:178536444;178536443;178536442 | chr2:179401171;179401170;179401169 |
| Novex-1 | 24495 | 73708;73709;73710 | chr2:178536444;178536443;178536442 | chr2:179401171;179401170;179401169 |
| Novex-2 | 24562 | 73909;73910;73911 | chr2:178536444;178536443;178536442 | chr2:179401171;179401170;179401169 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/Q | rs773848816  |
-0.08 | 0.999 | N | 0.617 | 0.291 | 0.218112801441 | gnomAD-2.1.1 | 2.15E-05 | None | None | None | None | N | None | 0 | 8.53E-05 | None | 0 | 1.02575E-04 | None | 0 | None | 0 | 7.84E-06 | 0 |
| K/Q | rs773848816 |
-0.08 | 0.999 | N | 0.617 | 0.291 | 0.218112801441 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 1.92604E-04 | None | 0 | 0 | 0 | 0 | 4.77555E-04 |
| K/Q | rs773848816 |
-0.08 | 0.999 | N | 0.617 | 0.291 | 0.218112801441 | gnomAD-4.0.0 | 1.79904E-05 | None | None | None | None | N | None | 1.33736E-05 | 5.0132E-05 | None | 0 | 4.45692E-05 | None | 0 | 0 | 1.52704E-05 | 2.19959E-05 | 4.80893E-05 |
| K/T | rs1311083435 |
None | 0.999 | N | 0.621 | 0.506 | 0.396494342077 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| K/T | rs1311083435 |
None | 0.999 | N | 0.621 | 0.506 | 0.396494342077 | gnomAD-4.0.0 | 6.56892E-06 | None | None | None | None | N | None | 2.41115E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/A | 0.468 | ambiguous | 0.4329 | ambiguous | 0.044 | Stabilizing | 0.998 | D | 0.599 | neutral | None | None | None | None | N |
| K/C | 0.8178 | likely_pathogenic | 0.7817 | pathogenic | -0.218 | Destabilizing | 1.0 | D | 0.712 | prob.delet. | None | None | None | None | N |
| K/D | 0.635 | likely_pathogenic | 0.6315 | pathogenic | -0.08 | Destabilizing | 1.0 | D | 0.648 | neutral | None | None | None | None | N |
| K/E | 0.3007 | likely_benign | 0.2931 | benign | -0.045 | Destabilizing | 0.996 | D | 0.572 | neutral | N | 0.464511031 | None | None | N |
| K/F | 0.8304 | likely_pathogenic | 0.8052 | pathogenic | -0.006 | Destabilizing | 1.0 | D | 0.692 | prob.neutral | None | None | None | None | N |
| K/G | 0.4269 | ambiguous | 0.4075 | ambiguous | -0.19 | Destabilizing | 1.0 | D | 0.559 | neutral | None | None | None | None | N |
| K/H | 0.4541 | ambiguous | 0.4109 | ambiguous | -0.398 | Destabilizing | 1.0 | D | 0.641 | neutral | None | None | None | None | N |
| K/I | 0.4856 | ambiguous | 0.4557 | ambiguous | 0.594 | Stabilizing | 1.0 | D | 0.703 | prob.neutral | None | None | None | None | N |
| K/L | 0.463 | ambiguous | 0.4276 | ambiguous | 0.594 | Stabilizing | 1.0 | D | 0.559 | neutral | None | None | None | None | N |
| K/M | 0.3606 | ambiguous | 0.3291 | benign | 0.149 | Stabilizing | 1.0 | D | 0.649 | neutral | N | 0.469166739 | None | None | N |
| K/N | 0.411 | ambiguous | 0.405 | ambiguous | 0.127 | Stabilizing | 0.999 | D | 0.631 | neutral | N | 0.460545219 | None | None | N |
| K/P | 0.7977 | likely_pathogenic | 0.7973 | pathogenic | 0.439 | Stabilizing | 1.0 | D | 0.629 | neutral | None | None | None | None | N |
| K/Q | 0.1919 | likely_benign | 0.1674 | benign | 0.03 | Stabilizing | 0.999 | D | 0.617 | neutral | N | 0.472303795 | None | None | N |
| K/R | 0.1118 | likely_benign | 0.1011 | benign | -0.105 | Destabilizing | 0.64 | D | 0.423 | neutral | N | 0.490889556 | None | None | N |
| K/S | 0.4707 | ambiguous | 0.4467 | ambiguous | -0.281 | Destabilizing | 0.998 | D | 0.581 | neutral | None | None | None | None | N |
| K/T | 0.2587 | likely_benign | 0.2399 | benign | -0.092 | Destabilizing | 0.999 | D | 0.621 | neutral | N | 0.436748427 | None | None | N |
| K/V | 0.4899 | ambiguous | 0.4529 | ambiguous | 0.439 | Stabilizing | 1.0 | D | 0.66 | neutral | None | None | None | None | N |
| K/W | 0.8644 | likely_pathogenic | 0.8452 | pathogenic | -0.058 | Destabilizing | 1.0 | D | 0.727 | prob.delet. | None | None | None | None | N |
| K/Y | 0.7024 | likely_pathogenic | 0.672 | pathogenic | 0.273 | Stabilizing | 1.0 | D | 0.662 | neutral | 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.