Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29154 | 87685;87686;87687 | chr2:178557894;178557893;178557892 | chr2:179422621;179422620;179422619 |
| N2AB | 27513 | 82762;82763;82764 | chr2:178557894;178557893;178557892 | chr2:179422621;179422620;179422619 |
| N2A | 26586 | 79981;79982;79983 | chr2:178557894;178557893;178557892 | chr2:179422621;179422620;179422619 |
| N2B | 20089 | 60490;60491;60492 | chr2:178557894;178557893;178557892 | chr2:179422621;179422620;179422619 |
| Novex-1 | 20214 | 60865;60866;60867 | chr2:178557894;178557893;178557892 | chr2:179422621;179422620;179422619 |
| Novex-2 | 20281 | 61066;61067;61068 | chr2:178557894;178557893;178557892 | chr2:179422621;179422620;179422619 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/R | rs766960470  |
-0.714 | 1.0 | N | 0.837 | 0.586 | 0.390060412749 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 6.46E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| S/R | rs766960470 |
-0.714 | 1.0 | N | 0.837 | 0.586 | 0.390060412749 | gnomAD-4.0.0 | 1.59157E-06 | None | None | None | None | N | None | 5.65163E-05 | 0 | None | 0 | 0 | None | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.1029 | likely_benign | 0.1042 | benign | -0.73 | Destabilizing | 0.998 | D | 0.459 | neutral | None | None | None | None | N |
| S/C | 0.1023 | likely_benign | 0.1087 | benign | -0.813 | Destabilizing | 1.0 | D | 0.815 | deleterious | N | 0.511084285 | None | None | N |
| S/D | 0.719 | likely_pathogenic | 0.7716 | pathogenic | -1.225 | Destabilizing | 0.999 | D | 0.5 | neutral | None | None | None | None | N |
| S/E | 0.7952 | likely_pathogenic | 0.8322 | pathogenic | -1.152 | Destabilizing | 0.999 | D | 0.485 | neutral | None | None | None | None | N |
| S/F | 0.2704 | likely_benign | 0.2887 | benign | -0.726 | Destabilizing | 1.0 | D | 0.876 | deleterious | None | None | None | None | N |
| S/G | 0.0894 | likely_benign | 0.0961 | benign | -1.029 | Destabilizing | 0.999 | D | 0.475 | neutral | N | 0.491054245 | None | None | N |
| S/H | 0.4738 | ambiguous | 0.5237 | ambiguous | -1.452 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| S/I | 0.3521 | ambiguous | 0.3688 | ambiguous | -0.022 | Destabilizing | 1.0 | D | 0.851 | deleterious | D | 0.530580891 | None | None | N |
| S/K | 0.9105 | likely_pathogenic | 0.9331 | pathogenic | -0.741 | Destabilizing | 0.999 | D | 0.49 | neutral | None | None | None | None | N |
| S/L | 0.213 | likely_benign | 0.2137 | benign | -0.022 | Destabilizing | 1.0 | D | 0.756 | deleterious | None | None | None | None | N |
| S/M | 0.2054 | likely_benign | 0.2122 | benign | 0.075 | Stabilizing | 1.0 | D | 0.818 | deleterious | None | None | None | None | N |
| S/N | 0.182 | likely_benign | 0.2057 | benign | -1.038 | Destabilizing | 0.999 | D | 0.498 | neutral | N | 0.477469441 | None | None | N |
| S/P | 0.9864 | likely_pathogenic | 0.9895 | pathogenic | -0.224 | Destabilizing | 1.0 | D | 0.832 | deleterious | None | None | None | None | N |
| S/Q | 0.6979 | likely_pathogenic | 0.7395 | pathogenic | -1.112 | Destabilizing | 1.0 | D | 0.757 | deleterious | None | None | None | None | N |
| S/R | 0.8737 | likely_pathogenic | 0.902 | pathogenic | -0.735 | Destabilizing | 1.0 | D | 0.837 | deleterious | N | 0.503967487 | None | None | N |
| S/T | 0.1149 | likely_benign | 0.1225 | benign | -0.869 | Destabilizing | 0.999 | D | 0.47 | neutral | N | 0.478048418 | None | None | N |
| S/V | 0.3428 | ambiguous | 0.3631 | ambiguous | -0.224 | Destabilizing | 1.0 | D | 0.796 | deleterious | None | None | None | None | N |
| S/W | 0.4919 | ambiguous | 0.4977 | ambiguous | -0.813 | Destabilizing | 1.0 | D | 0.846 | deleterious | None | None | None | None | N |
| S/Y | 0.2326 | likely_benign | 0.2455 | benign | -0.471 | Destabilizing | 1.0 | D | 0.883 | 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.