Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15733 | 47422;47423;47424 | chr2:178618261;178618260;178618259 | chr2:179482988;179482987;179482986 |
| N2AB | 14092 | 42499;42500;42501 | chr2:178618261;178618260;178618259 | chr2:179482988;179482987;179482986 |
| N2A | 13165 | 39718;39719;39720 | chr2:178618261;178618260;178618259 | chr2:179482988;179482987;179482986 |
| N2B | 6668 | 20227;20228;20229 | chr2:178618261;178618260;178618259 | chr2:179482988;179482987;179482986 |
| Novex-1 | 6793 | 20602;20603;20604 | chr2:178618261;178618260;178618259 | chr2:179482988;179482987;179482986 |
| Novex-2 | 6860 | 20803;20804;20805 | chr2:178618261;178618260;178618259 | chr2:179482988;179482987;179482986 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/N | rs190180127  |
-1.291 | 0.998 | D | 0.702 | 0.244 | None | gnomAD-2.1.1 | 2.01E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.79392E-04 | None | 0 | None | 0 | 0 | 0 |
| S/N | rs190180127 |
-1.291 | 0.998 | D | 0.702 | 0.244 | None | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 3.89408E-04 | None | 0 | 0 | 0 | 0 | 0 |
| S/N | rs190180127 |
-1.291 | 0.998 | D | 0.702 | 0.244 | None | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 1E-03 | 0 | None | None | None | 0 | None |
| S/N | rs190180127 |
-1.291 | 0.998 | D | 0.702 | 0.244 | None | gnomAD-4.0.0 | 4.34021E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.56397E-04 | None | 0 | 0 | 0 | 0 | 0 |
| S/T | rs190180127 |
-0.733 | 0.98 | N | 0.663 | 0.247 | 0.283761946502 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.92E-06 | 0 |
| S/T | rs190180127 |
-0.733 | 0.98 | N | 0.663 | 0.247 | 0.283761946502 | gnomAD-4.0.0 | 6.84568E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.9986E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.1232 | likely_benign | 0.1277 | benign | -0.955 | Destabilizing | 0.931 | D | 0.631 | neutral | None | None | None | None | N |
| S/C | 0.0982 | likely_benign | 0.0896 | benign | -0.955 | Destabilizing | 0.071 | N | 0.571 | neutral | N | 0.451084353 | None | None | N |
| S/D | 0.933 | likely_pathogenic | 0.9554 | pathogenic | -2.013 | Highly Destabilizing | 0.999 | D | 0.704 | prob.neutral | None | None | None | None | N |
| S/E | 0.9073 | likely_pathogenic | 0.9027 | pathogenic | -1.814 | Destabilizing | 0.999 | D | 0.705 | prob.neutral | None | None | None | None | N |
| S/F | 0.4262 | ambiguous | 0.5184 | ambiguous | -0.646 | Destabilizing | 0.999 | D | 0.795 | deleterious | None | None | None | None | N |
| S/G | 0.2051 | likely_benign | 0.2563 | benign | -1.334 | Destabilizing | 0.98 | D | 0.667 | neutral | D | 0.530063674 | None | None | N |
| S/H | 0.6811 | likely_pathogenic | 0.7043 | pathogenic | -1.611 | Destabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | None | N |
| S/I | 0.5578 | ambiguous | 0.5195 | ambiguous | 0.007 | Stabilizing | 0.994 | D | 0.746 | deleterious | N | 0.475765136 | None | None | N |
| S/K | 0.9513 | likely_pathogenic | 0.9267 | pathogenic | -0.641 | Destabilizing | 0.999 | D | 0.691 | prob.neutral | None | None | None | None | N |
| S/L | 0.2402 | likely_benign | 0.3091 | benign | 0.007 | Stabilizing | 0.97 | D | 0.736 | prob.delet. | None | None | None | None | N |
| S/M | 0.2981 | likely_benign | 0.3083 | benign | -0.198 | Destabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | N |
| S/N | 0.5603 | ambiguous | 0.6348 | pathogenic | -1.374 | Destabilizing | 0.998 | D | 0.702 | prob.neutral | D | 0.553727737 | None | None | N |
| S/P | 0.9944 | likely_pathogenic | 0.9969 | pathogenic | -0.281 | Destabilizing | 0.999 | D | 0.767 | deleterious | None | None | None | None | N |
| S/Q | 0.772 | likely_pathogenic | 0.7189 | pathogenic | -1.11 | Destabilizing | 0.999 | D | 0.749 | deleterious | None | None | None | None | N |
| S/R | 0.8935 | likely_pathogenic | 0.8206 | pathogenic | -0.946 | Destabilizing | 0.998 | D | 0.769 | deleterious | N | 0.448209668 | None | None | N |
| S/T | 0.1927 | likely_benign | 0.2077 | benign | -0.98 | Destabilizing | 0.98 | D | 0.663 | neutral | N | 0.442308048 | None | None | N |
| S/V | 0.4591 | ambiguous | 0.4603 | ambiguous | -0.281 | Destabilizing | 0.991 | D | 0.735 | prob.delet. | None | None | None | None | N |
| S/W | 0.6398 | likely_pathogenic | 0.7206 | pathogenic | -0.978 | Destabilizing | 1.0 | D | 0.788 | deleterious | None | None | None | None | N |
| S/Y | 0.4124 | ambiguous | 0.5015 | ambiguous | -0.537 | Destabilizing | 0.999 | D | 0.799 | 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.