Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18047 | 54364;54365;54366 | chr2:178605038;178605037;178605036 | chr2:179469765;179469764;179469763 |
| N2AB | 16406 | 49441;49442;49443 | chr2:178605038;178605037;178605036 | chr2:179469765;179469764;179469763 |
| N2A | 15479 | 46660;46661;46662 | chr2:178605038;178605037;178605036 | chr2:179469765;179469764;179469763 |
| N2B | 8982 | 27169;27170;27171 | chr2:178605038;178605037;178605036 | chr2:179469765;179469764;179469763 |
| Novex-1 | 9107 | 27544;27545;27546 | chr2:178605038;178605037;178605036 | chr2:179469765;179469764;179469763 |
| Novex-2 | 9174 | 27745;27746;27747 | chr2:178605038;178605037;178605036 | chr2:179469765;179469764;179469763 |
| 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 | rs760705006  |
-1.582 | 1.0 | D | 0.765 | 0.743 | 0.675432577748 | gnomAD-2.1.1 | 4.06E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.6E-05 | None | 0 | None | 0 | 0 | 0 |
| A/T | rs760705006 |
-1.582 | 1.0 | D | 0.765 | 0.743 | 0.675432577748 | gnomAD-4.0.0 | 1.60104E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.77809E-05 | None | 0 | 0 | 0 | 0 | 0 |
| A/V | rs373815064 |
-0.414 | 1.0 | N | 0.606 | 0.493 | None | gnomAD-2.1.1 | 3.6E-05 | None | None | None | None | N | None | 4.14E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.31E-05 | 1.42005E-04 |
| A/V | rs373815064 |
-0.414 | 1.0 | N | 0.606 | 0.493 | None | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 4.42E-05 | 0 | 0 |
| A/V | rs373815064 |
-0.414 | 1.0 | N | 0.606 | 0.493 | None | gnomAD-4.0.0 | 2.54889E-05 | None | None | None | None | N | None | 1.33987E-05 | 1.67572E-05 | None | 0 | 0 | None | 0 | 0 | 2.97493E-05 | 1.10317E-05 | 4.8216E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.8081 | likely_pathogenic | 0.8251 | pathogenic | -1.246 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| A/D | 0.9993 | likely_pathogenic | 0.9995 | pathogenic | -1.7 | Destabilizing | 1.0 | D | 0.896 | deleterious | D | 0.627624554 | None | None | N |
| A/E | 0.9986 | likely_pathogenic | 0.9989 | pathogenic | -1.736 | Destabilizing | 1.0 | D | 0.87 | deleterious | None | None | None | None | N |
| A/F | 0.9861 | likely_pathogenic | 0.9892 | pathogenic | -1.198 | Destabilizing | 1.0 | D | 0.918 | deleterious | None | None | None | None | N |
| A/G | 0.4319 | ambiguous | 0.4624 | ambiguous | -1.234 | Destabilizing | 1.0 | D | 0.563 | neutral | D | 0.569411947 | None | None | N |
| A/H | 0.999 | likely_pathogenic | 0.9992 | pathogenic | -1.376 | Destabilizing | 1.0 | D | 0.903 | deleterious | None | None | None | None | N |
| A/I | 0.8648 | likely_pathogenic | 0.8798 | pathogenic | -0.498 | Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | N |
| A/K | 0.9996 | likely_pathogenic | 0.9997 | pathogenic | -1.272 | Destabilizing | 1.0 | D | 0.866 | deleterious | None | None | None | None | N |
| A/L | 0.7897 | likely_pathogenic | 0.8104 | pathogenic | -0.498 | Destabilizing | 1.0 | D | 0.788 | deleterious | None | None | None | None | N |
| A/M | 0.9263 | likely_pathogenic | 0.9401 | pathogenic | -0.478 | Destabilizing | 1.0 | D | 0.895 | deleterious | None | None | None | None | N |
| A/N | 0.9973 | likely_pathogenic | 0.9979 | pathogenic | -1.088 | Destabilizing | 1.0 | D | 0.903 | deleterious | None | None | None | None | N |
| A/P | 0.9978 | likely_pathogenic | 0.9982 | pathogenic | -0.625 | Destabilizing | 1.0 | D | 0.885 | deleterious | D | 0.601884638 | None | None | N |
| A/Q | 0.9962 | likely_pathogenic | 0.9972 | pathogenic | -1.3 | Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | N |
| A/R | 0.998 | likely_pathogenic | 0.9985 | pathogenic | -0.908 | Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | N |
| A/S | 0.5733 | likely_pathogenic | 0.5873 | pathogenic | -1.398 | Destabilizing | 1.0 | D | 0.561 | neutral | D | 0.594748254 | None | None | N |
| A/T | 0.762 | likely_pathogenic | 0.7824 | pathogenic | -1.349 | Destabilizing | 1.0 | D | 0.765 | deleterious | D | 0.610565811 | None | None | N |
| A/V | 0.5585 | ambiguous | 0.6059 | pathogenic | -0.625 | Destabilizing | 1.0 | D | 0.606 | neutral | N | 0.497086585 | None | None | N |
| A/W | 0.9996 | likely_pathogenic | 0.9997 | pathogenic | -1.508 | Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| A/Y | 0.9973 | likely_pathogenic | 0.9981 | pathogenic | -1.115 | Destabilizing | 1.0 | D | 0.924 | 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.