Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9471 | 28636;28637;28638 | chr2:178710686;178710685;178710684 | chr2:179575413;179575412;179575411 |
| N2AB | 9154 | 27685;27686;27687 | chr2:178710686;178710685;178710684 | chr2:179575413;179575412;179575411 |
| N2A | 8227 | 24904;24905;24906 | chr2:178710686;178710685;178710684 | chr2:179575413;179575412;179575411 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/G | None | None | 0.999 | None | 0.602 | 0.596 | 0.674832526739 | gnomAD-4.0.0 | 6.8445E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99459E-07 | 0 | 0 |
| A/S | rs2076526997  |
None | 0.999 | None | 0.597 | 0.534 | 0.625091758369 | gnomAD-4.0.0 | 6.84433E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.51889E-05 | None | 0 | 0 | 0 | 0 | 0 |
| A/T | None | None | 0.999 | None | 0.732 | 0.543 | 0.672034750773 | gnomAD-4.0.0 | 6.84433E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99457E-07 | 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 | 0.8601 | likely_pathogenic | 0.9414 | pathogenic | -1.117 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| A/D | 0.9955 | likely_pathogenic | 0.9982 | pathogenic | -2.194 | Highly Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| A/E | 0.9926 | likely_pathogenic | 0.996 | pathogenic | -2.017 | Highly Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| A/F | 0.9375 | likely_pathogenic | 0.9773 | pathogenic | -0.705 | Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| A/G | 0.3371 | likely_benign | 0.4459 | ambiguous | -1.607 | Destabilizing | 0.999 | D | 0.602 | neutral | None | None | None | None | N |
| A/H | 0.9943 | likely_pathogenic | 0.9982 | pathogenic | -1.98 | Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | N |
| A/I | 0.7421 | likely_pathogenic | 0.8797 | pathogenic | 0.042 | Stabilizing | 0.91 | D | 0.536 | neutral | None | None | None | None | N |
| A/K | 0.9979 | likely_pathogenic | 0.999 | pathogenic | -1.268 | Destabilizing | 1.0 | D | 0.846 | deleterious | None | None | None | None | N |
| A/L | 0.7054 | likely_pathogenic | 0.8124 | pathogenic | 0.042 | Stabilizing | 0.994 | D | 0.677 | prob.neutral | None | None | None | None | N |
| A/M | 0.8342 | likely_pathogenic | 0.9253 | pathogenic | -0.212 | Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | N |
| A/N | 0.9886 | likely_pathogenic | 0.9963 | pathogenic | -1.468 | Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | N |
| A/P | 0.9887 | likely_pathogenic | 0.9927 | pathogenic | -0.314 | Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| A/Q | 0.9867 | likely_pathogenic | 0.9935 | pathogenic | -1.305 | Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | N |
| A/R | 0.99 | likely_pathogenic | 0.9938 | pathogenic | -1.317 | Destabilizing | 1.0 | D | 0.866 | deleterious | None | None | None | None | N |
| A/S | 0.3607 | ambiguous | 0.5266 | ambiguous | -1.883 | Destabilizing | 0.999 | D | 0.597 | neutral | None | None | None | None | N |
| A/T | 0.4953 | ambiguous | 0.7112 | pathogenic | -1.59 | Destabilizing | 0.999 | D | 0.732 | prob.delet. | None | None | None | None | N |
| A/V | 0.4035 | ambiguous | 0.5963 | pathogenic | -0.314 | Destabilizing | 0.992 | D | 0.61 | neutral | None | None | None | None | N |
| A/W | 0.9971 | likely_pathogenic | 0.999 | pathogenic | -1.439 | Destabilizing | 1.0 | D | 0.862 | deleterious | None | None | None | None | N |
| A/Y | 0.9878 | likely_pathogenic | 0.9963 | pathogenic | -0.906 | Destabilizing | 1.0 | D | 0.902 | 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.