Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24540 | 73843;73844;73845 | chr2:178572514;178572513;178572512 | chr2:179437241;179437240;179437239 |
| N2AB | 22899 | 68920;68921;68922 | chr2:178572514;178572513;178572512 | chr2:179437241;179437240;179437239 |
| N2A | 21972 | 66139;66140;66141 | chr2:178572514;178572513;178572512 | chr2:179437241;179437240;179437239 |
| N2B | 15475 | 46648;46649;46650 | chr2:178572514;178572513;178572512 | chr2:179437241;179437240;179437239 |
| Novex-1 | 15600 | 47023;47024;47025 | chr2:178572514;178572513;178572512 | chr2:179437241;179437240;179437239 |
| Novex-2 | 15667 | 47224;47225;47226 | chr2:178572514;178572513;178572512 | chr2:179437241;179437240;179437239 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/G | rs564995755  |
-3.804 | 1.0 | D | 0.811 | 0.851 | 0.640427019709 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| W/G | rs564995755 |
-3.804 | 1.0 | D | 0.811 | 0.851 | 0.640427019709 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| W/G | rs564995755 |
-3.804 | 1.0 | D | 0.811 | 0.851 | 0.640427019709 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 1.4E-03 | None | None | 0 | 0 | None | None | None | 0 | None |
| W/G | rs564995755 |
-3.804 | 1.0 | D | 0.811 | 0.851 | 0.640427019709 | gnomAD-4.0.0 | 6.56918E-06 | None | None | None | None | N | None | 0 | 6.54365E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| W/R | None | None | 1.0 | D | 0.867 | 0.834 | 0.914327042773 | 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 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/A | 0.9987 | likely_pathogenic | 0.9969 | pathogenic | -3.762 | Highly Destabilizing | 1.0 | D | 0.84 | deleterious | None | None | None | None | N |
| W/C | 0.999 | likely_pathogenic | 0.9977 | pathogenic | -2.4 | Highly Destabilizing | 1.0 | D | 0.787 | deleterious | D | 0.68544781 | None | None | N |
| W/D | 1.0 | likely_pathogenic | 0.9999 | pathogenic | -3.993 | Highly Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| W/E | 1.0 | likely_pathogenic | 0.9999 | pathogenic | -3.885 | Highly Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| W/F | 0.8652 | likely_pathogenic | 0.8553 | pathogenic | -2.377 | Highly Destabilizing | 1.0 | D | 0.846 | deleterious | None | None | None | None | N |
| W/G | 0.9946 | likely_pathogenic | 0.9889 | pathogenic | -3.999 | Highly Destabilizing | 1.0 | D | 0.811 | deleterious | D | 0.68544781 | None | None | N |
| W/H | 0.9993 | likely_pathogenic | 0.9988 | pathogenic | -2.892 | Highly Destabilizing | 1.0 | D | 0.82 | deleterious | None | None | None | None | N |
| W/I | 0.9978 | likely_pathogenic | 0.9953 | pathogenic | -2.826 | Highly Destabilizing | 1.0 | D | 0.856 | deleterious | None | None | None | None | N |
| W/K | 1.0 | likely_pathogenic | 0.9999 | pathogenic | -2.976 | Highly Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| W/L | 0.9942 | likely_pathogenic | 0.9889 | pathogenic | -2.826 | Highly Destabilizing | 1.0 | D | 0.811 | deleterious | D | 0.684236984 | None | None | N |
| W/M | 0.9983 | likely_pathogenic | 0.9968 | pathogenic | -2.343 | Highly Destabilizing | 1.0 | D | 0.776 | deleterious | None | None | None | None | N |
| W/N | 0.9999 | likely_pathogenic | 0.9998 | pathogenic | -3.646 | Highly Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | N |
| W/P | 0.9999 | likely_pathogenic | 0.9997 | pathogenic | -3.171 | Highly Destabilizing | 1.0 | D | 0.878 | deleterious | None | None | None | None | N |
| W/Q | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -3.528 | Highly Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| W/R | 0.9999 | likely_pathogenic | 0.9997 | pathogenic | -2.518 | Highly Destabilizing | 1.0 | D | 0.867 | deleterious | D | 0.68544781 | None | None | N |
| W/S | 0.9984 | likely_pathogenic | 0.9964 | pathogenic | -3.826 | Highly Destabilizing | 1.0 | D | 0.838 | deleterious | D | 0.669196284 | None | None | N |
| W/T | 0.9993 | likely_pathogenic | 0.9982 | pathogenic | -3.644 | Highly Destabilizing | 1.0 | D | 0.81 | deleterious | None | None | None | None | N |
| W/V | 0.9973 | likely_pathogenic | 0.9942 | pathogenic | -3.171 | Highly Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| W/Y | 0.9816 | likely_pathogenic | 0.9756 | pathogenic | -2.289 | Highly Destabilizing | 1.0 | D | 0.812 | 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.