Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 7218 | 21877;21878;21879 | chr2:178723448;178723447;178723446 | chr2:179588175;179588174;179588173 |
| N2AB | 6901 | 20926;20927;20928 | chr2:178723448;178723447;178723446 | chr2:179588175;179588174;179588173 |
| N2A | 5974 | 18145;18146;18147 | chr2:178723448;178723447;178723446 | chr2:179588175;179588174;179588173 |
| 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/T | rs1286778967  |
-0.753 | None | D | 0.091 | 0.166 | 0.0666544352282 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.92E-06 | 0 |
| A/T | rs1286778967 |
-0.753 | None | D | 0.091 | 0.166 | 0.0666544352282 | gnomAD-4.0.0 | 4.77948E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.58276E-06 | 0 | 0 |
| A/V | rs763125654 |
-0.014 | None | N | 0.141 | 0.151 | 0.324436698001 | gnomAD-2.1.1 | 6.06E-05 | None | None | None | None | N | None | 0 | 4.36834E-04 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| A/V | rs763125654 |
-0.014 | None | N | 0.141 | 0.151 | 0.324436698001 | gnomAD-4.0.0 | 2.86757E-05 | None | None | None | None | N | None | 0 | 4.12163E-04 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.5003 | ambiguous | 0.5201 | ambiguous | -0.788 | Destabilizing | 0.676 | D | 0.535 | neutral | None | None | None | None | N |
| A/D | 0.1727 | likely_benign | 0.1519 | benign | -0.439 | Destabilizing | None | N | 0.351 | neutral | None | None | None | None | N |
| A/E | 0.1976 | likely_benign | 0.1871 | benign | -0.514 | Destabilizing | None | N | 0.226 | neutral | N | 0.507219737 | None | None | N |
| A/F | 0.2992 | likely_benign | 0.2901 | benign | -0.844 | Destabilizing | 0.214 | N | 0.583 | neutral | None | None | None | None | N |
| A/G | 0.1575 | likely_benign | 0.1659 | benign | -0.833 | Destabilizing | 0.024 | N | 0.395 | neutral | N | 0.50225701 | None | None | N |
| A/H | 0.4261 | ambiguous | 0.4027 | ambiguous | -0.88 | Destabilizing | 0.628 | D | 0.572 | neutral | None | None | None | None | N |
| A/I | 0.1758 | likely_benign | 0.1613 | benign | -0.3 | Destabilizing | 0.038 | N | 0.523 | neutral | None | None | None | None | N |
| A/K | 0.3353 | likely_benign | 0.3156 | benign | -0.878 | Destabilizing | 0.031 | N | 0.503 | neutral | None | None | None | None | N |
| A/L | 0.1871 | likely_benign | 0.1783 | benign | -0.3 | Destabilizing | 0.016 | N | 0.491 | neutral | None | None | None | None | N |
| A/M | 0.2007 | likely_benign | 0.1883 | benign | -0.35 | Destabilizing | 0.356 | N | 0.563 | neutral | None | None | None | None | N |
| A/N | 0.1937 | likely_benign | 0.1785 | benign | -0.555 | Destabilizing | 0.038 | N | 0.567 | neutral | None | None | None | None | N |
| A/P | 0.7716 | likely_pathogenic | 0.7522 | pathogenic | -0.373 | Destabilizing | 0.106 | N | 0.572 | neutral | D | 0.540364851 | None | None | N |
| A/Q | 0.3066 | likely_benign | 0.2925 | benign | -0.742 | Destabilizing | 0.072 | N | 0.567 | neutral | None | None | None | None | N |
| A/R | 0.3005 | likely_benign | 0.2853 | benign | -0.526 | Destabilizing | 0.072 | N | 0.572 | neutral | None | None | None | None | N |
| A/S | 0.0917 | likely_benign | 0.0907 | benign | -0.918 | Destabilizing | 0.012 | N | 0.427 | neutral | N | 0.491759624 | None | None | N |
| A/T | 0.0762 | likely_benign | 0.0717 | benign | -0.897 | Destabilizing | None | N | 0.091 | neutral | D | 0.5283658 | None | None | N |
| A/V | 0.0993 | likely_benign | 0.0941 | benign | -0.373 | Destabilizing | None | N | 0.141 | neutral | N | 0.498984256 | None | None | N |
| A/W | 0.7277 | likely_pathogenic | 0.7148 | pathogenic | -1.084 | Destabilizing | 0.864 | D | 0.611 | neutral | None | None | None | None | N |
| A/Y | 0.39 | ambiguous | 0.3786 | ambiguous | -0.7 | Destabilizing | 0.356 | N | 0.579 | neutral | 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.