Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21588 | 64987;64988;64989 | chr2:178584879;178584878;178584877 | chr2:179449606;179449605;179449604 |
| N2AB | 19947 | 60064;60065;60066 | chr2:178584879;178584878;178584877 | chr2:179449606;179449605;179449604 |
| N2A | 19020 | 57283;57284;57285 | chr2:178584879;178584878;178584877 | chr2:179449606;179449605;179449604 |
| N2B | 12523 | 37792;37793;37794 | chr2:178584879;178584878;178584877 | chr2:179449606;179449605;179449604 |
| Novex-1 | 12648 | 38167;38168;38169 | chr2:178584879;178584878;178584877 | chr2:179449606;179449605;179449604 |
| Novex-2 | 12715 | 38368;38369;38370 | chr2:178584879;178584878;178584877 | chr2:179449606;179449605;179449604 |
| 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 | None | None | 0.984 | D | 0.655 | 0.463 | 0.365317461125 | gnomAD-4.0.0 | 3.60097E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.9375E-06 | 0 | 0 |
| G/R | rs181717727  |
-0.756 | 0.856 | N | 0.679 | 0.448 | 0.482721949076 | gnomAD-2.1.1 | 8.65937E-04 | None | None | None | None | N | None | 8.48159E-03 | 3.11385E-04 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 1.72525E-04 | 4.21704E-04 |
| G/R | rs181717727 |
-0.756 | 0.856 | N | 0.679 | 0.448 | 0.482721949076 | gnomAD-3.1.2 | 2.48E-03 | None | None | None | None | N | None | 8.13617E-03 | 9.8322E-04 | 0 | 0 | 0 | None | 0 | 0 | 2.94239E-04 | 2.07297E-04 | 1.91205E-03 |
| G/R | rs181717727 |
-0.756 | 0.856 | N | 0.679 | 0.448 | 0.482721949076 | 1000 genomes | 3.19489E-03 | None | None | None | None | N | None | 1.13E-02 | 1.4E-03 | None | None | 0 | 0 | None | None | None | 0 | None |
| G/R | rs181717727 |
-0.756 | 0.856 | N | 0.679 | 0.448 | 0.482721949076 | gnomAD-4.0.0 | 6.17981E-04 | None | None | None | None | N | None | 8.30822E-03 | 5.33511E-04 | None | 0 | 0 | None | 0 | 2.31405E-03 | 2.2212E-04 | 3.29446E-05 | 1.00871E-03 |
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 | 0.981 | likely_pathogenic | 0.9836 | pathogenic | -0.316 | Destabilizing | 0.984 | D | 0.655 | neutral | D | 0.526695508 | None | None | N |
| G/C | 0.9955 | likely_pathogenic | 0.9964 | pathogenic | -0.791 | Destabilizing | 1.0 | D | 0.8 | deleterious | None | None | None | None | N |
| G/D | 0.9982 | likely_pathogenic | 0.9988 | pathogenic | -0.523 | Destabilizing | 0.997 | D | 0.854 | deleterious | None | None | None | None | N |
| G/E | 0.9988 | likely_pathogenic | 0.9992 | pathogenic | -0.685 | Destabilizing | 0.996 | D | 0.845 | deleterious | D | 0.552433085 | None | None | N |
| G/F | 0.9994 | likely_pathogenic | 0.9995 | pathogenic | -1.081 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| G/H | 0.9995 | likely_pathogenic | 0.9996 | pathogenic | -0.632 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| G/I | 0.9993 | likely_pathogenic | 0.9996 | pathogenic | -0.416 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| G/K | 0.999 | likely_pathogenic | 0.9993 | pathogenic | -0.723 | Destabilizing | 0.993 | D | 0.833 | deleterious | None | None | None | None | N |
| G/L | 0.9992 | likely_pathogenic | 0.9994 | pathogenic | -0.416 | Destabilizing | 0.997 | D | 0.837 | deleterious | None | None | None | None | N |
| G/M | 0.9995 | likely_pathogenic | 0.9997 | pathogenic | -0.345 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| G/N | 0.9987 | likely_pathogenic | 0.9991 | pathogenic | -0.33 | Destabilizing | 0.997 | D | 0.827 | deleterious | None | None | None | None | N |
| G/P | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -0.349 | Destabilizing | 0.999 | D | 0.857 | deleterious | None | None | None | None | N |
| G/Q | 0.9991 | likely_pathogenic | 0.9994 | pathogenic | -0.633 | Destabilizing | 0.997 | D | 0.857 | deleterious | None | None | None | None | N |
| G/R | 0.9965 | likely_pathogenic | 0.9974 | pathogenic | -0.3 | Destabilizing | 0.856 | D | 0.679 | prob.neutral | N | 0.502906487 | None | None | N |
| G/S | 0.9804 | likely_pathogenic | 0.9849 | pathogenic | -0.5 | Destabilizing | 0.997 | D | 0.812 | deleterious | None | None | None | None | N |
| G/T | 0.9971 | likely_pathogenic | 0.998 | pathogenic | -0.591 | Destabilizing | 0.997 | D | 0.857 | deleterious | None | None | None | None | N |
| G/V | 0.9985 | likely_pathogenic | 0.9989 | pathogenic | -0.349 | Destabilizing | 0.998 | D | 0.831 | deleterious | D | 0.535849767 | None | None | N |
| G/W | 0.9984 | likely_pathogenic | 0.999 | pathogenic | -1.236 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| G/Y | 0.9992 | likely_pathogenic | 0.9994 | pathogenic | -0.87 | Destabilizing | 1.0 | D | 0.814 | 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.