Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9565 | 28918;28919;28920 | chr2:178709626;178709625;178709624 | chr2:179574353;179574352;179574351 |
| N2AB | 9248 | 27967;27968;27969 | chr2:178709626;178709625;178709624 | chr2:179574353;179574352;179574351 |
| N2A | 8321 | 25186;25187;25188 | chr2:178709626;178709625;178709624 | chr2:179574353;179574352;179574351 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/I | rs1423863240  |
-0.188 | 0.885 | None | 0.648 | 0.218 | 0.394837016283 | gnomAD-2.1.1 | 6.37E-05 | None | None | None | None | N | None | 2.29516E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| T/I | rs1423863240 |
-0.188 | 0.885 | None | 0.648 | 0.218 | 0.394837016283 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 7.24E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/I | rs1423863240 |
-0.188 | 0.885 | None | 0.648 | 0.218 | 0.394837016283 | gnomAD-4.0.0 | 3.71794E-06 | None | None | None | None | N | None | 6.67307E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.09784E-05 | 0 |
| T/S | rs368995369 |
-1.283 | 0.969 | None | 0.57 | 0.227 | None | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 6.46E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| T/S | rs368995369 |
-1.283 | 0.969 | None | 0.57 | 0.227 | None | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 4.82E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/S | rs368995369 |
-1.283 | 0.969 | None | 0.57 | 0.227 | None | gnomAD-4.0.0 | 3.84266E-06 | None | None | None | None | N | None | 5.07219E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.2122 | likely_benign | 0.1928 | benign | -1.234 | Destabilizing | 0.863 | D | 0.605 | neutral | None | None | None | None | N |
| T/C | 0.6696 | likely_pathogenic | 0.6421 | pathogenic | -0.564 | Destabilizing | 0.999 | D | 0.685 | prob.neutral | None | None | None | None | N |
| T/D | 0.9052 | likely_pathogenic | 0.9035 | pathogenic | -1.447 | Destabilizing | 0.998 | D | 0.675 | prob.neutral | None | None | None | None | N |
| T/E | 0.8404 | likely_pathogenic | 0.8348 | pathogenic | -1.186 | Destabilizing | 0.993 | D | 0.678 | prob.neutral | None | None | None | None | N |
| T/F | 0.6307 | likely_pathogenic | 0.5636 | ambiguous | -0.818 | Destabilizing | 0.986 | D | 0.729 | prob.delet. | None | None | None | None | N |
| T/G | 0.6085 | likely_pathogenic | 0.583 | pathogenic | -1.673 | Destabilizing | 0.993 | D | 0.699 | prob.neutral | None | None | None | None | N |
| T/H | 0.6176 | likely_pathogenic | 0.5875 | pathogenic | -1.578 | Destabilizing | 0.999 | D | 0.736 | prob.delet. | None | None | None | None | N |
| T/I | 0.455 | ambiguous | 0.4108 | ambiguous | -0.046 | Destabilizing | 0.885 | D | 0.648 | neutral | None | None | None | None | N |
| T/K | 0.761 | likely_pathogenic | 0.7685 | pathogenic | 0.013 | Stabilizing | 0.982 | D | 0.679 | prob.neutral | None | None | None | None | N |
| T/L | 0.3229 | likely_benign | 0.2847 | benign | -0.046 | Destabilizing | 0.591 | D | 0.671 | neutral | None | None | None | None | N |
| T/M | 0.2238 | likely_benign | 0.1906 | benign | -0.194 | Destabilizing | 0.807 | D | 0.61 | neutral | None | None | None | None | N |
| T/N | 0.4275 | ambiguous | 0.4068 | ambiguous | -0.837 | Destabilizing | 0.998 | D | 0.639 | neutral | None | None | None | None | N |
| T/P | 0.8689 | likely_pathogenic | 0.904 | pathogenic | -0.414 | Destabilizing | 0.997 | D | 0.697 | prob.neutral | None | None | None | None | N |
| T/Q | 0.6287 | likely_pathogenic | 0.6158 | pathogenic | -0.503 | Destabilizing | 0.993 | D | 0.695 | prob.neutral | None | None | None | None | N |
| T/R | 0.6118 | likely_pathogenic | 0.6196 | pathogenic | -0.398 | Destabilizing | 0.991 | D | 0.693 | prob.neutral | None | None | None | None | N |
| T/S | 0.2015 | likely_benign | 0.1704 | benign | -1.105 | Destabilizing | 0.969 | D | 0.57 | neutral | None | None | None | None | N |
| T/V | 0.3415 | ambiguous | 0.3003 | benign | -0.414 | Destabilizing | 0.214 | N | 0.472 | neutral | None | None | None | None | N |
| T/W | 0.9053 | likely_pathogenic | 0.8838 | pathogenic | -0.973 | Destabilizing | 0.999 | D | 0.727 | prob.delet. | None | None | None | None | N |
| T/Y | 0.6464 | likely_pathogenic | 0.594 | pathogenic | -0.566 | Destabilizing | 0.993 | D | 0.755 | 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.