Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17941 | 54046;54047;54048 | chr2:178605474;178605473;178605472 | chr2:179470201;179470200;179470199 |
| N2AB | 16300 | 49123;49124;49125 | chr2:178605474;178605473;178605472 | chr2:179470201;179470200;179470199 |
| N2A | 15373 | 46342;46343;46344 | chr2:178605474;178605473;178605472 | chr2:179470201;179470200;179470199 |
| N2B | 8876 | 26851;26852;26853 | chr2:178605474;178605473;178605472 | chr2:179470201;179470200;179470199 |
| Novex-1 | 9001 | 27226;27227;27228 | chr2:178605474;178605473;178605472 | chr2:179470201;179470200;179470199 |
| Novex-2 | 9068 | 27427;27428;27429 | chr2:178605474;178605473;178605472 | chr2:179470201;179470200;179470199 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/D | None | None | 0.999 | N | 0.585 | 0.667 | 0.333154297509 | gnomAD-4.0.0 | 1.59558E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.03343E-05 |
| N/I | rs75257026  |
-0.003 | 1.0 | D | 0.8 | 0.713 | 0.766019827495 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 1.66834E-04 |
| N/I | rs75257026 |
-0.003 | 1.0 | D | 0.8 | 0.713 | 0.766019827495 | gnomAD-4.0.0 | 1.5956E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.03306E-05 |
| N/K | None | None | 1.0 | D | 0.727 | 0.49 | 0.202949470691 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| N/S | None | None | 0.999 | N | 0.567 | 0.554 | 0.265010934533 | gnomAD-4.0.0 | 1.5956E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86651E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/A | 0.9886 | likely_pathogenic | 0.9781 | pathogenic | -0.813 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | N |
| N/C | 0.9104 | likely_pathogenic | 0.8568 | pathogenic | -0.684 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| N/D | 0.9726 | likely_pathogenic | 0.9471 | pathogenic | -2.276 | Highly Destabilizing | 0.999 | D | 0.585 | neutral | N | 0.512838122 | None | None | N |
| N/E | 0.9969 | likely_pathogenic | 0.9945 | pathogenic | -2.077 | Highly Destabilizing | 0.999 | D | 0.695 | prob.neutral | None | None | None | None | N |
| N/F | 0.9989 | likely_pathogenic | 0.998 | pathogenic | -0.554 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| N/G | 0.9627 | likely_pathogenic | 0.932 | pathogenic | -1.134 | Destabilizing | 0.999 | D | 0.541 | neutral | None | None | None | None | N |
| N/H | 0.9708 | likely_pathogenic | 0.94 | pathogenic | -0.83 | Destabilizing | 1.0 | D | 0.773 | deleterious | D | 0.545945987 | None | None | N |
| N/I | 0.9941 | likely_pathogenic | 0.9888 | pathogenic | 0.017 | Stabilizing | 1.0 | D | 0.8 | deleterious | D | 0.546452966 | None | None | N |
| N/K | 0.9977 | likely_pathogenic | 0.9955 | pathogenic | -0.371 | Destabilizing | 1.0 | D | 0.727 | prob.delet. | D | 0.545185519 | None | None | N |
| N/L | 0.9664 | likely_pathogenic | 0.9498 | pathogenic | 0.017 | Stabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| N/M | 0.9867 | likely_pathogenic | 0.9774 | pathogenic | 0.09 | Stabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| N/P | 0.995 | likely_pathogenic | 0.9921 | pathogenic | -0.233 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| N/Q | 0.9966 | likely_pathogenic | 0.9931 | pathogenic | -1.102 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | N |
| N/R | 0.9947 | likely_pathogenic | 0.9901 | pathogenic | -0.478 | Destabilizing | 1.0 | D | 0.784 | deleterious | None | None | None | None | N |
| N/S | 0.6347 | likely_pathogenic | 0.5077 | ambiguous | -1.199 | Destabilizing | 0.999 | D | 0.567 | neutral | N | 0.496642744 | None | None | N |
| N/T | 0.8301 | likely_pathogenic | 0.7479 | pathogenic | -0.854 | Destabilizing | 0.999 | D | 0.687 | prob.neutral | N | 0.496043178 | None | None | N |
| N/V | 0.9874 | likely_pathogenic | 0.9792 | pathogenic | -0.233 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| N/W | 0.9993 | likely_pathogenic | 0.9986 | pathogenic | -0.628 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| N/Y | 0.9919 | likely_pathogenic | 0.984 | pathogenic | -0.196 | Destabilizing | 1.0 | D | 0.809 | deleterious | D | 0.534678587 | 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.