Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 1364 | 4315;4316;4317 | chr2:178778992;178778991;178778990 | chr2:179643719;179643718;179643717 |
| N2AB | 1364 | 4315;4316;4317 | chr2:178778992;178778991;178778990 | chr2:179643719;179643718;179643717 |
| N2A | 1364 | 4315;4316;4317 | chr2:178778992;178778991;178778990 | chr2:179643719;179643718;179643717 |
| N2B | 1318 | 4177;4178;4179 | chr2:178778992;178778991;178778990 | chr2:179643719;179643718;179643717 |
| Novex-1 | 1318 | 4177;4178;4179 | chr2:178778992;178778991;178778990 | chr2:179643719;179643718;179643717 |
| Novex-2 | 1318 | 4177;4178;4179 | chr2:178778992;178778991;178778990 | chr2:179643719;179643718;179643717 |
| Novex-3 | 1364 | 4315;4316;4317 | chr2:178778992;178778991;178778990 | chr2:179643719;179643718;179643717 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/T | rs1171035485  |
-0.94 | 0.977 | N | 0.745 | 0.301 | 0.335414705075 | gnomAD-2.1.1 | 1.99E-05 | None | None | None | None | N | None | 0 | 1.44617E-04 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| A/T | rs1171035485 |
-0.94 | 0.977 | N | 0.745 | 0.301 | 0.335414705075 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 0 | 1.30959E-04 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| A/T | rs1171035485 |
-0.94 | 0.977 | N | 0.745 | 0.301 | 0.335414705075 | gnomAD-4.0.0 | 1.40886E-05 | None | None | None | None | N | None | 0 | 1.69474E-04 | None | 0 | 0 | None | 0 | 0 | 2.3921E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.5864 | likely_pathogenic | 0.56 | ambiguous | -0.288 | Destabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | N |
| A/D | 0.9984 | likely_pathogenic | 0.9982 | pathogenic | -2.03 | Highly Destabilizing | 0.999 | D | 0.873 | deleterious | None | None | None | None | N |
| A/E | 0.9946 | likely_pathogenic | 0.9944 | pathogenic | -1.747 | Destabilizing | 0.997 | D | 0.8 | deleterious | N | 0.461468333 | None | None | N |
| A/F | 0.949 | likely_pathogenic | 0.9433 | pathogenic | -0.299 | Destabilizing | 0.995 | D | 0.882 | deleterious | None | None | None | None | N |
| A/G | 0.6172 | likely_pathogenic | 0.5958 | pathogenic | -1.171 | Destabilizing | 0.989 | D | 0.735 | prob.delet. | N | 0.461468333 | None | None | N |
| A/H | 0.9959 | likely_pathogenic | 0.996 | pathogenic | -1.893 | Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | N |
| A/I | 0.4806 | ambiguous | 0.477 | ambiguous | 0.887 | Stabilizing | 0.966 | D | 0.757 | deleterious | None | None | None | None | N |
| A/K | 0.9985 | likely_pathogenic | 0.9985 | pathogenic | -0.543 | Destabilizing | 0.998 | D | 0.8 | deleterious | None | None | None | None | N |
| A/L | 0.4342 | ambiguous | 0.4328 | ambiguous | 0.887 | Stabilizing | 0.966 | D | 0.755 | deleterious | None | None | None | None | N |
| A/M | 0.6921 | likely_pathogenic | 0.6907 | pathogenic | 0.591 | Stabilizing | 0.999 | D | 0.809 | deleterious | None | None | None | None | N |
| A/N | 0.9883 | likely_pathogenic | 0.988 | pathogenic | -1.087 | Destabilizing | 0.999 | D | 0.882 | deleterious | None | None | None | None | N |
| A/P | 0.995 | likely_pathogenic | 0.9954 | pathogenic | 0.425 | Stabilizing | 0.999 | D | 0.813 | deleterious | N | 0.461468333 | None | None | N |
| A/Q | 0.9879 | likely_pathogenic | 0.9883 | pathogenic | -0.709 | Destabilizing | 0.999 | D | 0.816 | deleterious | None | None | None | None | N |
| A/R | 0.9937 | likely_pathogenic | 0.9943 | pathogenic | -1.022 | Destabilizing | 0.998 | D | 0.808 | deleterious | None | None | None | None | N |
| A/S | 0.4601 | ambiguous | 0.4604 | ambiguous | -1.425 | Destabilizing | 0.989 | D | 0.736 | prob.delet. | N | 0.452636894 | None | None | N |
| A/T | 0.4127 | ambiguous | 0.4092 | ambiguous | -0.997 | Destabilizing | 0.977 | D | 0.745 | deleterious | N | 0.460167236 | None | None | N |
| A/V | 0.1745 | likely_benign | 0.1748 | benign | 0.425 | Stabilizing | 0.117 | N | 0.384 | neutral | N | 0.377464203 | None | None | N |
| A/W | 0.9984 | likely_pathogenic | 0.9984 | pathogenic | -1.234 | Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | N |
| A/Y | 0.9907 | likely_pathogenic | 0.99 | pathogenic | -0.551 | Destabilizing | 0.998 | D | 0.893 | 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.