Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 1030 | 3313;3314;3315 | chr2:178782818;178782817;178782816 | chr2:179647545;179647544;179647543 |
| N2AB | 1030 | 3313;3314;3315 | chr2:178782818;178782817;178782816 | chr2:179647545;179647544;179647543 |
| N2A | 1030 | 3313;3314;3315 | chr2:178782818;178782817;178782816 | chr2:179647545;179647544;179647543 |
| N2B | 984 | 3175;3176;3177 | chr2:178782818;178782817;178782816 | chr2:179647545;179647544;179647543 |
| Novex-1 | 984 | 3175;3176;3177 | chr2:178782818;178782817;178782816 | chr2:179647545;179647544;179647543 |
| Novex-2 | 984 | 3175;3176;3177 | chr2:178782818;178782817;178782816 | chr2:179647545;179647544;179647543 |
| Novex-3 | 1030 | 3313;3314;3315 | chr2:178782818;178782817;178782816 | chr2:179647545;179647544;179647543 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/V | rs773367580  |
-1.518 | 0.999 | D | 0.589 | 0.567 | 0.671660481601 | gnomAD-2.1.1 | 7.98E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 9.25E-05 | 0 | 0 |
| L/V | rs773367580 |
-1.518 | 0.999 | D | 0.589 | 0.567 | 0.671660481601 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 9.41E-05 | 0 | 0 | 0 | 0 |
| L/V | rs773367580 |
-1.518 | 0.999 | D | 0.589 | 0.567 | 0.671660481601 | gnomAD-4.0.0 | 3.84703E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 4.70588E-05 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/A | 0.994 | likely_pathogenic | 0.992 | pathogenic | -2.679 | Highly Destabilizing | 0.999 | D | 0.784 | deleterious | None | None | None | None | N |
| L/C | 0.9962 | likely_pathogenic | 0.9948 | pathogenic | -2.008 | Highly Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | N |
| L/D | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -2.925 | Highly Destabilizing | 1.0 | D | 0.904 | deleterious | None | None | None | None | N |
| L/E | 0.9994 | likely_pathogenic | 0.9992 | pathogenic | -2.658 | Highly Destabilizing | 1.0 | D | 0.899 | deleterious | None | None | None | None | N |
| L/F | 0.9663 | likely_pathogenic | 0.9507 | pathogenic | -1.657 | Destabilizing | 1.0 | D | 0.834 | deleterious | None | None | None | None | N |
| L/G | 0.9992 | likely_pathogenic | 0.9991 | pathogenic | -3.272 | Highly Destabilizing | 1.0 | D | 0.896 | deleterious | None | None | None | None | N |
| L/H | 0.9989 | likely_pathogenic | 0.9986 | pathogenic | -2.792 | Highly Destabilizing | 1.0 | D | 0.895 | deleterious | None | None | None | None | N |
| L/I | 0.5535 | ambiguous | 0.4723 | ambiguous | -0.942 | Destabilizing | 0.999 | D | 0.589 | neutral | None | None | None | None | N |
| L/K | 0.9981 | likely_pathogenic | 0.9979 | pathogenic | -2.03 | Highly Destabilizing | 1.0 | D | 0.913 | deleterious | None | None | None | None | N |
| L/M | 0.8073 | likely_pathogenic | 0.7589 | pathogenic | -0.943 | Destabilizing | 1.0 | D | 0.812 | deleterious | D | 0.69883575 | None | None | N |
| L/N | 0.9996 | likely_pathogenic | 0.9995 | pathogenic | -2.485 | Highly Destabilizing | 1.0 | D | 0.903 | deleterious | None | None | None | None | N |
| L/P | 0.9996 | likely_pathogenic | 0.9995 | pathogenic | -1.504 | Destabilizing | 1.0 | D | 0.901 | deleterious | D | 0.781126182 | None | None | N |
| L/Q | 0.9982 | likely_pathogenic | 0.9978 | pathogenic | -2.263 | Highly Destabilizing | 1.0 | D | 0.914 | deleterious | D | 0.781126182 | None | None | N |
| L/R | 0.9959 | likely_pathogenic | 0.9956 | pathogenic | -1.861 | Destabilizing | 1.0 | D | 0.915 | deleterious | D | 0.781126182 | None | None | N |
| L/S | 0.9996 | likely_pathogenic | 0.9994 | pathogenic | -3.221 | Highly Destabilizing | 1.0 | D | 0.912 | deleterious | None | None | None | None | N |
| L/T | 0.9962 | likely_pathogenic | 0.995 | pathogenic | -2.791 | Highly Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| L/V | 0.6521 | likely_pathogenic | 0.5632 | ambiguous | -1.504 | Destabilizing | 0.999 | D | 0.589 | neutral | D | 0.545045221 | None | None | N |
| L/W | 0.9984 | likely_pathogenic | 0.9978 | pathogenic | -2.06 | Highly Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | None | None | N |
| L/Y | 0.9981 | likely_pathogenic | 0.9976 | pathogenic | -1.773 | Destabilizing | 1.0 | D | 0.891 | 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.