Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 1002 | 3229;3230;3231 | chr2:178782902;178782901;178782900 | chr2:179647629;179647628;179647627 |
| N2AB | 1002 | 3229;3230;3231 | chr2:178782902;178782901;178782900 | chr2:179647629;179647628;179647627 |
| N2A | 1002 | 3229;3230;3231 | chr2:178782902;178782901;178782900 | chr2:179647629;179647628;179647627 |
| N2B | 956 | 3091;3092;3093 | chr2:178782902;178782901;178782900 | chr2:179647629;179647628;179647627 |
| Novex-1 | 956 | 3091;3092;3093 | chr2:178782902;178782901;178782900 | chr2:179647629;179647628;179647627 |
| Novex-2 | 956 | 3091;3092;3093 | chr2:178782902;178782901;178782900 | chr2:179647629;179647628;179647627 |
| Novex-3 | 1002 | 3229;3230;3231 | chr2:178782902;178782901;178782900 | chr2:179647629;179647628;179647627 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/L | rs879153744  |
-1.043 | 0.993 | D | 0.404 | 0.505 | None | gnomAD-2.1.1 | 1.59E-05 | None | None | None | None | N | None | 1.23047E-04 | 5.78E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| I/L | rs879153744 |
-1.043 | 0.993 | D | 0.404 | 0.505 | None | gnomAD-3.1.2 | 3.94E-05 | None | None | None | None | N | None | 9.66E-05 | 1.30873E-04 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| I/L | rs879153744 |
-1.043 | 0.993 | D | 0.404 | 0.505 | None | gnomAD-4.0.0 | 8.05466E-06 | None | None | None | None | N | None | 1.20154E-04 | 6.66622E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| I/V | None | None | 0.993 | D | 0.373 | 0.506 | 0.764733137972 | gnomAD-4.0.0 | 1.36816E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.74406E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.9979 | likely_pathogenic | 0.9983 | pathogenic | -2.83 | Highly Destabilizing | 0.999 | D | 0.72 | prob.delet. | None | None | None | None | N |
| I/C | 0.9988 | likely_pathogenic | 0.999 | pathogenic | -2.311 | Highly Destabilizing | 1.0 | D | 0.842 | deleterious | None | None | None | None | N |
| I/D | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -2.975 | Highly Destabilizing | 1.0 | D | 0.886 | deleterious | None | None | None | None | N |
| I/E | 0.9989 | likely_pathogenic | 0.9992 | pathogenic | -2.702 | Highly Destabilizing | 1.0 | D | 0.888 | deleterious | None | None | None | None | N |
| I/F | 0.9456 | likely_pathogenic | 0.9512 | pathogenic | -1.704 | Destabilizing | 1.0 | D | 0.811 | deleterious | D | 0.634642438 | None | None | N |
| I/G | 0.9995 | likely_pathogenic | 0.9997 | pathogenic | -3.44 | Highly Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | N |
| I/H | 0.9991 | likely_pathogenic | 0.9993 | pathogenic | -2.851 | Highly Destabilizing | 1.0 | D | 0.899 | deleterious | None | None | None | None | N |
| I/K | 0.9972 | likely_pathogenic | 0.998 | pathogenic | -2.252 | Highly Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | N |
| I/L | 0.7188 | likely_pathogenic | 0.7342 | pathogenic | -1.039 | Destabilizing | 0.993 | D | 0.404 | neutral | D | 0.545001675 | None | None | N |
| I/M | 0.7435 | likely_pathogenic | 0.7659 | pathogenic | -1.1 | Destabilizing | 1.0 | D | 0.759 | deleterious | D | 0.700881793 | None | None | N |
| I/N | 0.9962 | likely_pathogenic | 0.9973 | pathogenic | -2.712 | Highly Destabilizing | 1.0 | D | 0.905 | deleterious | D | 0.783235731 | None | None | N |
| I/P | 0.9993 | likely_pathogenic | 0.9995 | pathogenic | -1.619 | Destabilizing | 1.0 | D | 0.899 | deleterious | None | None | None | None | N |
| I/Q | 0.9979 | likely_pathogenic | 0.9985 | pathogenic | -2.485 | Highly Destabilizing | 1.0 | D | 0.917 | deleterious | None | None | None | None | N |
| I/R | 0.9964 | likely_pathogenic | 0.9974 | pathogenic | -2.048 | Highly Destabilizing | 1.0 | D | 0.902 | deleterious | None | None | None | None | N |
| I/S | 0.9978 | likely_pathogenic | 0.9984 | pathogenic | -3.499 | Highly Destabilizing | 1.0 | D | 0.875 | deleterious | D | 0.783235731 | None | None | N |
| I/T | 0.9987 | likely_pathogenic | 0.9989 | pathogenic | -3.053 | Highly Destabilizing | 1.0 | D | 0.833 | deleterious | D | 0.817620442 | None | None | N |
| I/V | 0.6286 | likely_pathogenic | 0.6127 | pathogenic | -1.619 | Destabilizing | 0.993 | D | 0.373 | neutral | D | 0.612549894 | None | None | N |
| I/W | 0.9988 | likely_pathogenic | 0.9991 | pathogenic | -2.043 | Highly Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | None | None | N |
| I/Y | 0.9947 | likely_pathogenic | 0.9958 | pathogenic | -1.797 | Destabilizing | 1.0 | D | 0.835 | 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.