Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32862 | 98809;98810;98811 | chr2:178539481;178539480;178539479 | chr2:179404208;179404207;179404206 |
| N2AB | 31221 | 93886;93887;93888 | chr2:178539481;178539480;178539479 | chr2:179404208;179404207;179404206 |
| N2A | 30294 | 91105;91106;91107 | chr2:178539481;178539480;178539479 | chr2:179404208;179404207;179404206 |
| N2B | 23797 | 71614;71615;71616 | chr2:178539481;178539480;178539479 | chr2:179404208;179404207;179404206 |
| Novex-1 | 23922 | 71989;71990;71991 | chr2:178539481;178539480;178539479 | chr2:179404208;179404207;179404206 |
| Novex-2 | 23989 | 72190;72191;72192 | chr2:178539481;178539480;178539479 | chr2:179404208;179404207;179404206 |
| 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/G | rs754522958  |
-1.271 | 1.0 | N | 0.669 | 0.551 | 0.683498201844 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| E/G | rs754522958 |
-1.271 | 1.0 | N | 0.669 | 0.551 | 0.683498201844 | gnomAD-4.0.0 | 1.59116E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43279E-05 | 0 |
| E/K | rs1693326100 |
None | 0.999 | N | 0.677 | 0.383 | 0.486135451721 | gnomAD-4.0.0 | 3.42093E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.49728E-06 | 0 | 0 |
| E/V | rs754522958 |
-0.115 | 1.0 | N | 0.679 | 0.554 | 0.711382389189 | gnomAD-2.1.1 | 1.2E-05 | None | None | None | None | N | None | 0 | 8.69E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| E/V | rs754522958 |
-0.115 | 1.0 | N | 0.679 | 0.554 | 0.711382389189 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 6.54E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| E/V | rs754522958 |
-0.115 | 1.0 | N | 0.679 | 0.554 | 0.711382389189 | gnomAD-4.0.0 | 5.12399E-06 | None | None | None | None | N | None | 0 | 6.77782E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/A | 0.4338 | ambiguous | 0.4071 | ambiguous | -0.711 | Destabilizing | 0.999 | D | 0.673 | neutral | N | 0.473050625 | None | None | N |
| E/C | 0.9767 | likely_pathogenic | 0.9699 | pathogenic | -0.352 | Destabilizing | 1.0 | D | 0.723 | prob.delet. | None | None | None | None | N |
| E/D | 0.4078 | ambiguous | 0.4069 | ambiguous | -0.783 | Destabilizing | 0.999 | D | 0.565 | neutral | N | 0.485980774 | None | None | N |
| E/F | 0.9857 | likely_pathogenic | 0.9817 | pathogenic | -0.38 | Destabilizing | 1.0 | D | 0.712 | prob.delet. | None | None | None | None | N |
| E/G | 0.4476 | ambiguous | 0.4018 | ambiguous | -0.995 | Destabilizing | 1.0 | D | 0.669 | neutral | N | 0.517011497 | None | None | N |
| E/H | 0.9347 | likely_pathogenic | 0.9224 | pathogenic | -0.465 | Destabilizing | 1.0 | D | 0.665 | neutral | None | None | None | None | N |
| E/I | 0.8672 | likely_pathogenic | 0.8515 | pathogenic | 0.039 | Stabilizing | 1.0 | D | 0.713 | prob.delet. | None | None | None | None | N |
| E/K | 0.583 | likely_pathogenic | 0.5735 | pathogenic | -0.321 | Destabilizing | 0.999 | D | 0.677 | prob.neutral | N | 0.489044116 | None | None | N |
| E/L | 0.8918 | likely_pathogenic | 0.875 | pathogenic | 0.039 | Stabilizing | 1.0 | D | 0.7 | prob.neutral | None | None | None | None | N |
| E/M | 0.8954 | likely_pathogenic | 0.8769 | pathogenic | 0.291 | Stabilizing | 1.0 | D | 0.672 | neutral | None | None | None | None | N |
| E/N | 0.6858 | likely_pathogenic | 0.6793 | pathogenic | -0.681 | Destabilizing | 1.0 | D | 0.693 | prob.neutral | None | None | None | None | N |
| E/P | 0.6448 | likely_pathogenic | 0.6234 | pathogenic | -0.19 | Destabilizing | 1.0 | D | 0.683 | prob.neutral | None | None | None | None | N |
| E/Q | 0.4383 | ambiguous | 0.4244 | ambiguous | -0.61 | Destabilizing | 1.0 | D | 0.668 | neutral | N | 0.474357752 | None | None | N |
| E/R | 0.7639 | likely_pathogenic | 0.74 | pathogenic | -0.046 | Destabilizing | 1.0 | D | 0.689 | prob.neutral | None | None | None | None | N |
| E/S | 0.6215 | likely_pathogenic | 0.5997 | pathogenic | -0.906 | Destabilizing | 0.999 | D | 0.689 | prob.neutral | None | None | None | None | N |
| E/T | 0.7169 | likely_pathogenic | 0.7009 | pathogenic | -0.682 | Destabilizing | 1.0 | D | 0.699 | prob.neutral | None | None | None | None | N |
| E/V | 0.6913 | likely_pathogenic | 0.6585 | pathogenic | -0.19 | Destabilizing | 1.0 | D | 0.679 | prob.neutral | N | 0.48861412 | None | None | N |
| E/W | 0.9934 | likely_pathogenic | 0.9904 | pathogenic | -0.17 | Destabilizing | 1.0 | D | 0.724 | prob.delet. | None | None | None | None | N |
| E/Y | 0.9594 | likely_pathogenic | 0.9492 | pathogenic | -0.147 | Destabilizing | 1.0 | D | 0.69 | prob.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.