Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 6566 | 19921;19922;19923 | chr2:178728128;178728127;178728126 | chr2:179592855;179592854;179592853 |
| N2AB | 6249 | 18970;18971;18972 | chr2:178728128;178728127;178728126 | chr2:179592855;179592854;179592853 |
| N2A | 5322 | 16189;16190;16191 | chr2:178728128;178728127;178728126 | chr2:179592855;179592854;179592853 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | rs1052515116  |
-0.483 | 0.017 | N | 0.313 | 0.222 | 0.144782658237 | gnomAD-2.1.1 | 5.68E-05 | None | None | None | None | N | None | 0 | 3.42146E-04 | None | 0 | 0 | None | 0 | None | 0 | 0 | 3.62319E-04 |
| G/A | rs1052515116 |
-0.483 | 0.017 | N | 0.313 | 0.222 | 0.144782658237 | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | N | None | 0 | 2.62226E-04 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/A | rs1052515116 |
-0.483 | 0.017 | N | 0.313 | 0.222 | 0.144782658237 | gnomAD-4.0.0 | 1.19719E-05 | None | None | None | None | N | None | 0 | 2.95889E-04 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.26286E-05 |
| G/D | rs1052515116 |
None | 0.989 | N | 0.785 | 0.516 | 0.416581338634 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| G/D | rs1052515116 |
None | 0.989 | N | 0.785 | 0.516 | 0.416581338634 | gnomAD-4.0.0 | 5.04079E-06 | None | None | None | None | N | None | 1.34905E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 4.28755E-06 | 2.33084E-05 | 0 |
| G/S | rs774723988 |
-0.987 | 0.865 | N | 0.49 | 0.264 | 0.389126455913 | gnomAD-2.1.1 | 8.7E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.9E-05 | 0 |
| G/S | rs774723988 |
-0.987 | 0.865 | N | 0.49 | 0.264 | 0.389126455913 | gnomAD-4.0.0 | 6.2682E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.19238E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.0791 | likely_benign | 0.081 | benign | -0.832 | Destabilizing | 0.017 | N | 0.313 | neutral | N | 0.379959355 | None | None | N |
| G/C | 0.2939 | likely_benign | 0.3197 | benign | -1.251 | Destabilizing | 0.997 | D | 0.886 | deleterious | N | 0.510142612 | None | None | N |
| G/D | 0.8505 | likely_pathogenic | 0.8766 | pathogenic | -1.713 | Destabilizing | 0.989 | D | 0.785 | deleterious | N | 0.506025537 | None | None | N |
| G/E | 0.8294 | likely_pathogenic | 0.8674 | pathogenic | -1.734 | Destabilizing | 0.983 | D | 0.808 | deleterious | None | None | None | None | N |
| G/F | 0.8733 | likely_pathogenic | 0.8969 | pathogenic | -1.197 | Destabilizing | 0.992 | D | 0.9 | deleterious | None | None | None | None | N |
| G/H | 0.8988 | likely_pathogenic | 0.9223 | pathogenic | -1.515 | Destabilizing | 0.999 | D | 0.858 | deleterious | None | None | None | None | N |
| G/I | 0.6056 | likely_pathogenic | 0.6642 | pathogenic | -0.325 | Destabilizing | 0.983 | D | 0.88 | deleterious | None | None | None | None | N |
| G/K | 0.9462 | likely_pathogenic | 0.9638 | pathogenic | -1.302 | Destabilizing | 0.983 | D | 0.813 | deleterious | None | None | None | None | N |
| G/L | 0.6888 | likely_pathogenic | 0.7385 | pathogenic | -0.325 | Destabilizing | 0.968 | D | 0.816 | deleterious | None | None | None | None | N |
| G/M | 0.7093 | likely_pathogenic | 0.7458 | pathogenic | -0.292 | Destabilizing | 0.999 | D | 0.886 | deleterious | None | None | None | None | N |
| G/N | 0.7884 | likely_pathogenic | 0.8229 | pathogenic | -1.138 | Destabilizing | 0.992 | D | 0.735 | prob.delet. | None | None | None | None | N |
| G/P | 0.9917 | likely_pathogenic | 0.993 | pathogenic | -0.453 | Destabilizing | 0.992 | D | 0.854 | deleterious | None | None | None | None | N |
| G/Q | 0.8318 | likely_pathogenic | 0.8704 | pathogenic | -1.295 | Destabilizing | 0.992 | D | 0.872 | deleterious | None | None | None | None | N |
| G/R | 0.8446 | likely_pathogenic | 0.8892 | pathogenic | -1.042 | Destabilizing | 0.978 | D | 0.857 | deleterious | N | 0.498770609 | None | None | N |
| G/S | 0.1216 | likely_benign | 0.1331 | benign | -1.418 | Destabilizing | 0.865 | D | 0.49 | neutral | N | 0.488343188 | None | None | N |
| G/T | 0.2913 | likely_benign | 0.3098 | benign | -1.354 | Destabilizing | 0.983 | D | 0.787 | deleterious | None | None | None | None | N |
| G/V | 0.3824 | ambiguous | 0.4461 | ambiguous | -0.453 | Destabilizing | 0.957 | D | 0.807 | deleterious | N | 0.506675446 | None | None | N |
| G/W | 0.8611 | likely_pathogenic | 0.895 | pathogenic | -1.616 | Destabilizing | 0.999 | D | 0.839 | deleterious | None | None | None | None | N |
| G/Y | 0.8404 | likely_pathogenic | 0.8784 | pathogenic | -1.172 | Destabilizing | 0.999 | D | 0.895 | 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.