Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 6600 | 20023;20024;20025 | chr2:178727780;178727779;178727778 | chr2:179592507;179592506;179592505 |
| N2AB | 6283 | 19072;19073;19074 | chr2:178727780;178727779;178727778 | chr2:179592507;179592506;179592505 |
| N2A | 5356 | 16291;16292;16293 | chr2:178727780;178727779;178727778 | chr2:179592507;179592506;179592505 |
| 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/A | rs530353051  |
-0.423 | 0.993 | N | 0.587 | 0.349 | 0.424194796918 | gnomAD-2.1.1 | 2.82E-05 | None | None | None | None | I | None | 0 | 1.73974E-04 | None | 0 | 0 | None | 0 | None | 0 | 8.89E-06 | 0 |
| T/A | rs530353051 |
-0.423 | 0.993 | N | 0.587 | 0.349 | 0.424194796918 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | I | None | 0 | 6.55E-05 | 0 | 2.88018E-04 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| T/A | rs530353051 |
-0.423 | 0.993 | N | 0.587 | 0.349 | 0.424194796918 | 1000 genomes | 1.99681E-04 | None | None | None | None | I | None | 0 | 0 | None | None | 0 | 1E-03 | None | None | None | 0 | None |
| T/A | rs530353051 |
-0.423 | 0.993 | N | 0.587 | 0.349 | 0.424194796918 | gnomAD-4.0.0 | 1.6664E-05 | None | None | None | None | I | None | 0 | 1.69497E-04 | None | 4.09433E-05 | 0 | None | 0 | 0 | 4.79058E-06 | 0 | 0 |
| T/I | rs1355564295 |
0.119 | 1.0 | N | 0.765 | 0.42 | 0.528614029291 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 5.57E-05 | None | 0 | None | 0 | 0 | 0 |
| T/I | rs1355564295 |
0.119 | 1.0 | N | 0.765 | 0.42 | 0.528614029291 | gnomAD-4.0.0 | 2.40065E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 2.75482E-04 | None | 0 | 0 | 0 | 0 | 3.66327E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.1644 | likely_benign | 0.2071 | benign | -0.546 | Destabilizing | 0.993 | D | 0.587 | neutral | N | 0.484958768 | None | None | I |
| T/C | 0.7238 | likely_pathogenic | 0.8069 | pathogenic | -0.418 | Destabilizing | 1.0 | D | 0.734 | prob.delet. | None | None | None | None | I |
| T/D | 0.6451 | likely_pathogenic | 0.6947 | pathogenic | 0.121 | Stabilizing | 0.999 | D | 0.771 | deleterious | None | None | None | None | I |
| T/E | 0.5897 | likely_pathogenic | 0.6539 | pathogenic | 0.112 | Stabilizing | 1.0 | D | 0.772 | deleterious | None | None | None | None | I |
| T/F | 0.4061 | ambiguous | 0.5344 | ambiguous | -0.771 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | I |
| T/G | 0.4702 | ambiguous | 0.5741 | pathogenic | -0.758 | Destabilizing | 1.0 | D | 0.724 | prob.delet. | None | None | None | None | I |
| T/H | 0.4831 | ambiguous | 0.5567 | ambiguous | -0.871 | Destabilizing | 1.0 | D | 0.766 | deleterious | None | None | None | None | I |
| T/I | 0.4029 | ambiguous | 0.5145 | ambiguous | -0.086 | Destabilizing | 1.0 | D | 0.765 | deleterious | N | 0.485505427 | None | None | I |
| T/K | 0.4833 | ambiguous | 0.5439 | ambiguous | -0.506 | Destabilizing | 1.0 | D | 0.774 | deleterious | N | 0.491858075 | None | None | I |
| T/L | 0.2212 | likely_benign | 0.2707 | benign | -0.086 | Destabilizing | 1.0 | D | 0.695 | prob.neutral | None | None | None | None | I |
| T/M | 0.148 | likely_benign | 0.1731 | benign | -0.167 | Destabilizing | 1.0 | D | 0.736 | prob.delet. | None | None | None | None | I |
| T/N | 0.2085 | likely_benign | 0.2414 | benign | -0.408 | Destabilizing | 0.999 | D | 0.809 | deleterious | None | None | None | None | I |
| T/P | 0.5064 | ambiguous | 0.5721 | pathogenic | -0.208 | Destabilizing | 0.999 | D | 0.764 | deleterious | N | 0.503863171 | None | None | I |
| T/Q | 0.4286 | ambiguous | 0.485 | ambiguous | -0.495 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | I |
| T/R | 0.4194 | ambiguous | 0.483 | ambiguous | -0.271 | Destabilizing | 1.0 | D | 0.773 | deleterious | N | 0.507368664 | None | None | I |
| T/S | 0.1243 | likely_benign | 0.1392 | benign | -0.654 | Destabilizing | 0.993 | D | 0.626 | neutral | N | 0.448536793 | None | None | I |
| T/V | 0.3371 | likely_benign | 0.4093 | ambiguous | -0.208 | Destabilizing | 0.999 | D | 0.696 | prob.neutral | None | None | None | None | I |
| T/W | 0.7869 | likely_pathogenic | 0.8584 | pathogenic | -0.802 | Destabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | I |
| T/Y | 0.4492 | ambiguous | 0.5663 | pathogenic | -0.525 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | I |
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.