Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15648 | 47167;47168;47169 | chr2:178618608;178618607;178618606 | chr2:179483335;179483334;179483333 |
| N2AB | 14007 | 42244;42245;42246 | chr2:178618608;178618607;178618606 | chr2:179483335;179483334;179483333 |
| N2A | 13080 | 39463;39464;39465 | chr2:178618608;178618607;178618606 | chr2:179483335;179483334;179483333 |
| N2B | 6583 | 19972;19973;19974 | chr2:178618608;178618607;178618606 | chr2:179483335;179483334;179483333 |
| Novex-1 | 6708 | 20347;20348;20349 | chr2:178618608;178618607;178618606 | chr2:179483335;179483334;179483333 |
| Novex-2 | 6775 | 20548;20549;20550 | chr2:178618608;178618607;178618606 | chr2:179483335;179483334;179483333 |
| 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/E | rs1060500413  |
-0.488 | 0.497 | N | 0.812 | 0.214 | 0.187945064343 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.29E-05 | None | 0 | 0 | 0 |
| G/E | rs1060500413 |
-0.488 | 0.497 | N | 0.812 | 0.214 | 0.187945064343 | gnomAD-4.0.0 | 2.73959E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.00003E-07 | 2.3265E-05 | 1.65904E-05 |
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 | 0.0598 | likely_benign | 0.0803 | benign | -0.487 | Destabilizing | None | N | 0.327 | neutral | N | 0.296265202 | None | None | N |
| G/C | 0.1967 | likely_benign | 0.2514 | benign | -0.653 | Destabilizing | 0.909 | D | 0.821 | deleterious | None | None | None | None | N |
| G/D | 0.4759 | ambiguous | 0.5524 | ambiguous | -1.221 | Destabilizing | 0.567 | D | 0.809 | deleterious | None | None | None | None | N |
| G/E | 0.4749 | ambiguous | 0.5323 | ambiguous | -1.167 | Destabilizing | 0.497 | N | 0.812 | deleterious | N | 0.44123471 | None | None | N |
| G/F | 0.7009 | likely_pathogenic | 0.7793 | pathogenic | -0.595 | Destabilizing | 0.726 | D | 0.847 | deleterious | None | None | None | None | N |
| G/H | 0.6406 | likely_pathogenic | 0.6928 | pathogenic | -1.415 | Destabilizing | 0.968 | D | 0.79 | deleterious | None | None | None | None | N |
| G/I | 0.3525 | ambiguous | 0.4244 | ambiguous | 0.235 | Stabilizing | 0.567 | D | 0.835 | deleterious | None | None | None | None | N |
| G/K | 0.6903 | likely_pathogenic | 0.7075 | pathogenic | -1.129 | Destabilizing | 0.567 | D | 0.814 | deleterious | None | None | None | None | N |
| G/L | 0.438 | ambiguous | 0.5671 | pathogenic | 0.235 | Stabilizing | 0.157 | N | 0.799 | deleterious | None | None | None | None | N |
| G/M | 0.4721 | ambiguous | 0.5905 | pathogenic | 0.119 | Stabilizing | 0.909 | D | 0.82 | deleterious | None | None | None | None | N |
| G/N | 0.4259 | ambiguous | 0.5168 | ambiguous | -0.999 | Destabilizing | 0.726 | D | 0.727 | prob.delet. | None | None | None | None | N |
| G/P | 0.9804 | likely_pathogenic | 0.9888 | pathogenic | 0.04 | Stabilizing | 0.567 | D | 0.813 | deleterious | None | None | None | None | N |
| G/Q | 0.5528 | ambiguous | 0.6019 | pathogenic | -0.99 | Destabilizing | 0.726 | D | 0.825 | deleterious | None | None | None | None | N |
| G/R | 0.5754 | likely_pathogenic | 0.6211 | pathogenic | -1.047 | Destabilizing | 0.497 | N | 0.819 | deleterious | N | 0.442253551 | None | None | N |
| G/S | 0.1028 | likely_benign | 0.1331 | benign | -1.299 | Destabilizing | 0.072 | N | 0.651 | neutral | None | None | None | None | N |
| G/T | 0.1476 | likely_benign | 0.1877 | benign | -1.143 | Destabilizing | 0.157 | N | 0.775 | deleterious | None | None | None | None | N |
| G/V | 0.2108 | likely_benign | 0.2797 | benign | 0.04 | Stabilizing | 0.124 | N | 0.785 | deleterious | N | 0.441423793 | None | None | N |
| G/W | 0.6982 | likely_pathogenic | 0.7694 | pathogenic | -1.224 | Destabilizing | 0.968 | D | 0.788 | deleterious | None | None | None | None | N |
| G/Y | 0.5706 | likely_pathogenic | 0.6596 | pathogenic | -0.652 | Destabilizing | 0.726 | D | 0.841 | 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.