Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 6653 | 20182;20183;20184 | chr2:178727621;178727620;178727619 | chr2:179592348;179592347;179592346 |
| N2AB | 6336 | 19231;19232;19233 | chr2:178727621;178727620;178727619 | chr2:179592348;179592347;179592346 |
| N2A | 5409 | 16450;16451;16452 | chr2:178727621;178727620;178727619 | chr2:179592348;179592347;179592346 |
| 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 | rs1446415238  |
-0.291 | 1.0 | D | 0.616 | 0.65 | 0.516326692288 | gnomAD-2.1.1 | 8.44E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 7.24E-05 | None | 0 | 0 | 0 |
| G/A | rs1446415238 |
-0.291 | 1.0 | D | 0.616 | 0.65 | 0.516326692288 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07039E-04 | 0 |
| G/A | rs1446415238 |
-0.291 | 1.0 | D | 0.616 | 0.65 | 0.516326692288 | gnomAD-4.0.0 | 6.26272E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.13729E-04 | 0 |
| G/D | rs1446415238 |
None | 0.975 | D | 0.547 | 0.621 | 0.55025283692 | gnomAD-4.0.0 | 1.38437E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 5.0615E-05 | None | 0 | 0 | 0 | 0 | 0 |
| G/R | None | None | 1.0 | D | 0.803 | 0.705 | 0.850381006097 | gnomAD-4.0.0 | 1.63463E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.92535E-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 | 0.672 | likely_pathogenic | 0.6632 | pathogenic | -0.404 | Destabilizing | 1.0 | D | 0.616 | neutral | D | 0.588531606 | None | None | I |
| G/C | 0.9038 | likely_pathogenic | 0.9024 | pathogenic | -0.889 | Destabilizing | 1.0 | D | 0.772 | deleterious | D | 0.638032679 | None | None | I |
| G/D | 0.8668 | likely_pathogenic | 0.8926 | pathogenic | -0.842 | Destabilizing | 0.975 | D | 0.547 | neutral | D | 0.604147358 | None | None | I |
| G/E | 0.9359 | likely_pathogenic | 0.9448 | pathogenic | -1.02 | Destabilizing | 1.0 | D | 0.788 | deleterious | None | None | None | None | I |
| G/F | 0.9758 | likely_pathogenic | 0.9774 | pathogenic | -1.205 | Destabilizing | 1.0 | D | 0.81 | deleterious | None | None | None | None | I |
| G/H | 0.9713 | likely_pathogenic | 0.9769 | pathogenic | -0.618 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | I |
| G/I | 0.9693 | likely_pathogenic | 0.9698 | pathogenic | -0.602 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | I |
| G/K | 0.9712 | likely_pathogenic | 0.9781 | pathogenic | -0.89 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | I |
| G/L | 0.9665 | likely_pathogenic | 0.969 | pathogenic | -0.602 | Destabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | I |
| G/M | 0.9818 | likely_pathogenic | 0.9814 | pathogenic | -0.512 | Destabilizing | 1.0 | D | 0.75 | deleterious | None | None | None | None | I |
| G/N | 0.9437 | likely_pathogenic | 0.9497 | pathogenic | -0.536 | Destabilizing | 1.0 | D | 0.756 | deleterious | None | None | None | None | I |
| G/P | 0.997 | likely_pathogenic | 0.9978 | pathogenic | -0.505 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | I |
| G/Q | 0.951 | likely_pathogenic | 0.959 | pathogenic | -0.876 | Destabilizing | 1.0 | D | 0.804 | deleterious | None | None | None | None | I |
| G/R | 0.9246 | likely_pathogenic | 0.9416 | pathogenic | -0.373 | Destabilizing | 1.0 | D | 0.803 | deleterious | D | 0.611485546 | None | None | I |
| G/S | 0.5936 | likely_pathogenic | 0.6056 | pathogenic | -0.631 | Destabilizing | 1.0 | D | 0.759 | deleterious | D | 0.598837932 | None | None | I |
| G/T | 0.9036 | likely_pathogenic | 0.9065 | pathogenic | -0.752 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | I |
| G/V | 0.9356 | likely_pathogenic | 0.9369 | pathogenic | -0.505 | Destabilizing | 1.0 | D | 0.775 | deleterious | D | 0.637629071 | None | None | I |
| G/W | 0.9662 | likely_pathogenic | 0.9699 | pathogenic | -1.323 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | I |
| G/Y | 0.9628 | likely_pathogenic | 0.9667 | pathogenic | -0.998 | Destabilizing | 1.0 | D | 0.805 | 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.