Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 8830 | 26713;26714;26715 | chr2:178714170;178714169;178714168 | chr2:179578897;179578896;179578895 |
| N2AB | 8513 | 25762;25763;25764 | chr2:178714170;178714169;178714168 | chr2:179578897;179578896;179578895 |
| N2A | 7586 | 22981;22982;22983 | chr2:178714170;178714169;178714168 | chr2:179578897;179578896;179578895 |
| 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/E | None | None | 1.0 | N | 0.809 | 0.34 | 0.42828666871 | gnomAD-4.0.0 | 6.86803E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.5222E-05 | None | 0 | 0 | 0 | 0 | 0 |
| A/T | rs1358888602  |
-1.391 | 1.0 | N | 0.722 | 0.285 | 0.244539031024 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 6.42674E-04 | None | 0 | None | 0 | 0 | 0 |
| A/T | rs1358888602 |
-1.391 | 1.0 | N | 0.722 | 0.285 | 0.244539031024 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.92678E-04 | None | 0 | 0 | 0 | 0 | 0 |
| A/T | rs1358888602 |
-1.391 | 1.0 | N | 0.722 | 0.285 | 0.244539031024 | gnomAD-4.0.0 | 6.57315E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.92678E-04 | None | 0 | 0 | 0 | 0 | 0 |
| A/V | rs976129365 |
-0.557 | 1.0 | N | 0.673 | 0.332 | 0.391930172978 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 1.14732E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| A/V | rs976129365 |
-0.557 | 1.0 | N | 0.673 | 0.332 | 0.391930172978 | gnomAD-4.0.0 | 6.86803E-07 | None | None | None | None | N | None | 3.02407E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.8737 | likely_pathogenic | 0.9065 | pathogenic | -1.168 | Destabilizing | 1.0 | D | 0.752 | deleterious | None | None | None | None | N |
| A/D | 0.9851 | likely_pathogenic | 0.9891 | pathogenic | -1.744 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| A/E | 0.9763 | likely_pathogenic | 0.9819 | pathogenic | -1.799 | Destabilizing | 1.0 | D | 0.809 | deleterious | N | 0.463107946 | None | None | N |
| A/F | 0.9737 | likely_pathogenic | 0.9817 | pathogenic | -1.265 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| A/G | 0.419 | ambiguous | 0.4457 | ambiguous | -1.233 | Destabilizing | 1.0 | D | 0.621 | neutral | N | 0.474628835 | None | None | N |
| A/H | 0.9923 | likely_pathogenic | 0.994 | pathogenic | -1.32 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | N |
| A/I | 0.863 | likely_pathogenic | 0.9051 | pathogenic | -0.58 | Destabilizing | 1.0 | D | 0.808 | deleterious | None | None | None | None | N |
| A/K | 0.9945 | likely_pathogenic | 0.996 | pathogenic | -1.278 | Destabilizing | 1.0 | D | 0.808 | deleterious | None | None | None | None | N |
| A/L | 0.7834 | likely_pathogenic | 0.848 | pathogenic | -0.58 | Destabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | None | N |
| A/M | 0.8819 | likely_pathogenic | 0.9185 | pathogenic | -0.476 | Destabilizing | 1.0 | D | 0.772 | deleterious | None | None | None | None | N |
| A/N | 0.9697 | likely_pathogenic | 0.9791 | pathogenic | -1.072 | Destabilizing | 1.0 | D | 0.81 | deleterious | None | None | None | None | N |
| A/P | 0.5539 | ambiguous | 0.5767 | pathogenic | -0.687 | Destabilizing | 1.0 | D | 0.813 | deleterious | N | 0.398437102 | None | None | N |
| A/Q | 0.976 | likely_pathogenic | 0.9804 | pathogenic | -1.324 | Destabilizing | 1.0 | D | 0.814 | deleterious | None | None | None | None | N |
| A/R | 0.9865 | likely_pathogenic | 0.9888 | pathogenic | -0.845 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| A/S | 0.3066 | likely_benign | 0.331 | benign | -1.353 | Destabilizing | 1.0 | D | 0.624 | neutral | N | 0.475135814 | None | None | N |
| A/T | 0.5377 | ambiguous | 0.6301 | pathogenic | -1.329 | Destabilizing | 1.0 | D | 0.722 | prob.delet. | N | 0.453272578 | None | None | N |
| A/V | 0.5725 | likely_pathogenic | 0.6499 | pathogenic | -0.687 | Destabilizing | 1.0 | D | 0.673 | neutral | N | 0.458805986 | None | None | N |
| A/W | 0.9974 | likely_pathogenic | 0.9982 | pathogenic | -1.543 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | N |
| A/Y | 0.9901 | likely_pathogenic | 0.9927 | pathogenic | -1.166 | Destabilizing | 1.0 | D | 0.799 | 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.