Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22437 | 67534;67535;67536 | chr2:178579978;178579977;178579976 | chr2:179444705;179444704;179444703 |
| N2AB | 20796 | 62611;62612;62613 | chr2:178579978;178579977;178579976 | chr2:179444705;179444704;179444703 |
| N2A | 19869 | 59830;59831;59832 | chr2:178579978;178579977;178579976 | chr2:179444705;179444704;179444703 |
| N2B | 13372 | 40339;40340;40341 | chr2:178579978;178579977;178579976 | chr2:179444705;179444704;179444703 |
| Novex-1 | 13497 | 40714;40715;40716 | chr2:178579978;178579977;178579976 | chr2:179444705;179444704;179444703 |
| Novex-2 | 13564 | 40915;40916;40917 | chr2:178579978;178579977;178579976 | chr2:179444705;179444704;179444703 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | None | None | 1.0 | D | 0.695 | 0.751 | 0.458554320643 | gnomAD-4.0.0 | 1.59244E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.02572E-05 |
| G/D | None | None | 1.0 | D | 0.877 | 0.771 | 0.526232973257 | gnomAD-4.0.0 | 1.59244E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86026E-06 | 0 | 0 |
| G/R | rs794727434  |
-0.934 | 1.0 | D | 0.911 | 0.773 | 0.52468985305 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 4.66E-05 | 0 | 0 |
| G/R | rs794727434 |
-0.934 | 1.0 | D | 0.911 | 0.773 | 0.52468985305 | gnomAD-4.0.0 | 1.59249E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 1.88487E-05 | 0 | 0 | 0 | 0 |
| G/S | rs794727434 |
-1.112 | 1.0 | N | 0.807 | 0.598 | 0.349870743963 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 1.94099E-04 | None | 0 | 0 | 0 | 0 | 0 |
| G/S | rs794727434 |
-1.112 | 1.0 | N | 0.807 | 0.598 | 0.349870743963 | gnomAD-4.0.0 | 2.56412E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 2.43049E-05 | None | 0 | 0 | 0 | 0 | 2.84592E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.9008 | likely_pathogenic | 0.9246 | pathogenic | -0.739 | Destabilizing | 1.0 | D | 0.695 | prob.neutral | D | 0.555552136 | None | None | I |
| G/C | 0.9799 | likely_pathogenic | 0.9868 | pathogenic | -0.981 | Destabilizing | 1.0 | D | 0.846 | deleterious | D | 0.567922399 | None | None | I |
| G/D | 0.996 | likely_pathogenic | 0.9973 | pathogenic | -1.623 | Destabilizing | 1.0 | D | 0.877 | deleterious | D | 0.56741542 | None | None | I |
| G/E | 0.9976 | likely_pathogenic | 0.9984 | pathogenic | -1.609 | Destabilizing | 1.0 | D | 0.905 | deleterious | None | None | None | None | I |
| G/F | 0.9991 | likely_pathogenic | 0.9992 | pathogenic | -0.939 | Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | I |
| G/H | 0.9987 | likely_pathogenic | 0.9993 | pathogenic | -1.502 | Destabilizing | 1.0 | D | 0.83 | deleterious | None | None | None | None | I |
| G/I | 0.9987 | likely_pathogenic | 0.9991 | pathogenic | -0.138 | Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | None | I |
| G/K | 0.9991 | likely_pathogenic | 0.9994 | pathogenic | -1.169 | Destabilizing | 1.0 | D | 0.903 | deleterious | None | None | None | None | I |
| G/L | 0.9979 | likely_pathogenic | 0.9984 | pathogenic | -0.138 | Destabilizing | 1.0 | D | 0.89 | deleterious | None | None | None | None | I |
| G/M | 0.9988 | likely_pathogenic | 0.9992 | pathogenic | -0.21 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | I |
| G/N | 0.9963 | likely_pathogenic | 0.9975 | pathogenic | -1.034 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | I |
| G/P | 0.9995 | likely_pathogenic | 0.9995 | pathogenic | -0.296 | Destabilizing | 1.0 | D | 0.903 | deleterious | None | None | None | None | I |
| G/Q | 0.9976 | likely_pathogenic | 0.9985 | pathogenic | -1.134 | Destabilizing | 1.0 | D | 0.899 | deleterious | None | None | None | None | I |
| G/R | 0.9968 | likely_pathogenic | 0.9977 | pathogenic | -0.975 | Destabilizing | 1.0 | D | 0.911 | deleterious | D | 0.555045157 | None | None | I |
| G/S | 0.7291 | likely_pathogenic | 0.8486 | pathogenic | -1.31 | Destabilizing | 1.0 | D | 0.807 | deleterious | N | 0.518623235 | None | None | I |
| G/T | 0.9803 | likely_pathogenic | 0.9887 | pathogenic | -1.211 | Destabilizing | 1.0 | D | 0.901 | deleterious | None | None | None | None | I |
| G/V | 0.9967 | likely_pathogenic | 0.9976 | pathogenic | -0.296 | Destabilizing | 1.0 | D | 0.898 | deleterious | D | 0.549311165 | None | None | I |
| G/W | 0.997 | likely_pathogenic | 0.9983 | pathogenic | -1.452 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | I |
| G/Y | 0.9989 | likely_pathogenic | 0.9993 | pathogenic | -0.958 | Destabilizing | 1.0 | D | 0.87 | deleterious | None | None | None | None | I |
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.