Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23151 | 69676;69677;69678 | chr2:178576793;178576792;178576791 | chr2:179441520;179441519;179441518 |
| N2AB | 21510 | 64753;64754;64755 | chr2:178576793;178576792;178576791 | chr2:179441520;179441519;179441518 |
| N2A | 20583 | 61972;61973;61974 | chr2:178576793;178576792;178576791 | chr2:179441520;179441519;179441518 |
| N2B | 14086 | 42481;42482;42483 | chr2:178576793;178576792;178576791 | chr2:179441520;179441519;179441518 |
| Novex-1 | 14211 | 42856;42857;42858 | chr2:178576793;178576792;178576791 | chr2:179441520;179441519;179441518 |
| Novex-2 | 14278 | 43057;43058;43059 | chr2:178576793;178576792;178576791 | chr2:179441520;179441519;179441518 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | rs769864550  |
-1.352 | 0.822 | N | 0.426 | 0.293 | 0.5343833383 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.93E-06 | 0 |
| V/I | rs1230729325 |
-0.636 | 0.014 | N | 0.22 | 0.1 | 0.315609569513 | gnomAD-2.1.1 | 8.07E-06 | None | None | None | None | N | None | 0 | 5.82E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| V/I | rs1230729325 |
-0.636 | 0.014 | N | 0.22 | 0.1 | 0.315609569513 | gnomAD-4.0.0 | 3.1851E-06 | None | None | None | None | N | None | 0 | 4.57834E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.3467 | ambiguous | 0.3688 | ambiguous | -0.975 | Destabilizing | 0.822 | D | 0.426 | neutral | N | 0.471625955 | None | None | N |
| V/C | 0.7655 | likely_pathogenic | 0.7757 | pathogenic | -1.08 | Destabilizing | 0.998 | D | 0.719 | prob.delet. | None | None | None | None | N |
| V/D | 0.7805 | likely_pathogenic | 0.8536 | pathogenic | -1.056 | Destabilizing | 0.99 | D | 0.811 | deleterious | N | 0.513532458 | None | None | N |
| V/E | 0.6271 | likely_pathogenic | 0.6944 | pathogenic | -1.127 | Destabilizing | 0.993 | D | 0.75 | deleterious | None | None | None | None | N |
| V/F | 0.3819 | ambiguous | 0.4464 | ambiguous | -1.293 | Destabilizing | 0.942 | D | 0.737 | prob.delet. | N | 0.498176908 | None | None | N |
| V/G | 0.4629 | ambiguous | 0.5357 | ambiguous | -1.158 | Destabilizing | 0.971 | D | 0.795 | deleterious | N | 0.503190111 | None | None | N |
| V/H | 0.8085 | likely_pathogenic | 0.8424 | pathogenic | -0.822 | Destabilizing | 0.998 | D | 0.801 | deleterious | None | None | None | None | N |
| V/I | 0.0731 | likely_benign | 0.0704 | benign | -0.607 | Destabilizing | 0.014 | N | 0.22 | neutral | N | 0.487177247 | None | None | N |
| V/K | 0.5198 | ambiguous | 0.5679 | pathogenic | -0.665 | Destabilizing | 0.978 | D | 0.753 | deleterious | None | None | None | None | N |
| V/L | 0.3768 | ambiguous | 0.4022 | ambiguous | -0.607 | Destabilizing | 0.247 | N | 0.323 | neutral | N | 0.477689115 | None | None | N |
| V/M | 0.248 | likely_benign | 0.2625 | benign | -0.468 | Destabilizing | 0.956 | D | 0.652 | neutral | None | None | None | None | N |
| V/N | 0.6106 | likely_pathogenic | 0.6715 | pathogenic | -0.523 | Destabilizing | 0.993 | D | 0.803 | deleterious | None | None | None | None | N |
| V/P | 0.736 | likely_pathogenic | 0.7609 | pathogenic | -0.697 | Destabilizing | 0.993 | D | 0.775 | deleterious | None | None | None | None | N |
| V/Q | 0.571 | likely_pathogenic | 0.6111 | pathogenic | -0.824 | Destabilizing | 0.993 | D | 0.765 | deleterious | None | None | None | None | N |
| V/R | 0.4572 | ambiguous | 0.5167 | ambiguous | -0.198 | Destabilizing | 0.993 | D | 0.802 | deleterious | None | None | None | None | N |
| V/S | 0.481 | ambiguous | 0.5268 | ambiguous | -0.952 | Destabilizing | 0.978 | D | 0.75 | deleterious | None | None | None | None | N |
| V/T | 0.3094 | likely_benign | 0.331 | benign | -0.925 | Destabilizing | 0.86 | D | 0.529 | neutral | None | None | None | None | N |
| V/W | 0.9188 | likely_pathogenic | 0.9359 | pathogenic | -1.38 | Destabilizing | 0.998 | D | 0.799 | deleterious | None | None | None | None | N |
| V/Y | 0.7611 | likely_pathogenic | 0.7978 | pathogenic | -1.01 | Destabilizing | 0.978 | D | 0.757 | 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.