Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9452 | 28579;28580;28581 | chr2:178710743;178710742;178710741 | chr2:179575470;179575469;179575468 |
| N2AB | 9135 | 27628;27629;27630 | chr2:178710743;178710742;178710741 | chr2:179575470;179575469;179575468 |
| N2A | 8208 | 24847;24848;24849 | chr2:178710743;178710742;178710741 | chr2:179575470;179575469;179575468 |
| 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/P | rs527663092  |
-0.416 | 0.013 | None | 0.518 | 0.211 | 0.215869574891 | gnomAD-2.1.1 | 1.61E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 3.55E-05 | 0 |
| A/P | rs527663092 |
-0.416 | 0.013 | None | 0.518 | 0.211 | 0.215869574891 | gnomAD-4.0.0 | 8.89436E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.16926E-05 | 0 | 0 |
| A/T | rs527663092 |
-1.404 | 0.233 | None | 0.548 | 0.156 | None | gnomAD-2.1.1 | 6.02E-05 | None | None | None | None | N | None | 1.29166E-04 | 0 | None | 0 | 0 | None | 3.92131E-04 | None | 0 | 0 | 1.65344E-04 |
| A/T | rs527663092 |
-1.404 | 0.233 | None | 0.548 | 0.156 | None | gnomAD-3.1.2 | 7.23E-05 | None | None | None | None | N | None | 7.25E-05 | 3.92773E-04 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 2.07125E-04 | 0 |
| A/T | rs527663092 |
-1.404 | 0.233 | None | 0.548 | 0.156 | None | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 1.4E-03 | None | None | 0 | 0 | None | None | None | 0 | None |
| A/T | rs527663092 |
-1.404 | 0.233 | None | 0.548 | 0.156 | None | gnomAD-4.0.0 | 3.65595E-05 | None | None | None | None | N | None | 5.33333E-05 | 1.83284E-04 | None | 0 | 0 | None | 0 | 0 | 6.78071E-06 | 3.95257E-04 | 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 | 0.5343 | ambiguous | 0.7067 | pathogenic | -1.105 | Destabilizing | 0.998 | D | 0.752 | deleterious | None | None | None | None | N |
| A/D | 0.9277 | likely_pathogenic | 0.9771 | pathogenic | -2.556 | Highly Destabilizing | 0.801 | D | 0.769 | deleterious | None | None | None | None | N |
| A/E | 0.8781 | likely_pathogenic | 0.9516 | pathogenic | -2.358 | Highly Destabilizing | 0.842 | D | 0.747 | deleterious | None | None | None | None | N |
| A/F | 0.5558 | ambiguous | 0.7082 | pathogenic | -0.628 | Destabilizing | 0.974 | D | 0.759 | deleterious | None | None | None | None | N |
| A/G | 0.2747 | likely_benign | 0.3957 | ambiguous | -1.546 | Destabilizing | 0.801 | D | 0.698 | prob.neutral | None | None | None | None | N |
| A/H | 0.881 | likely_pathogenic | 0.9528 | pathogenic | -2.105 | Highly Destabilizing | 0.998 | D | 0.743 | deleterious | None | None | None | None | N |
| A/I | 0.3541 | ambiguous | 0.5827 | pathogenic | 0.184 | Stabilizing | 0.949 | D | 0.788 | deleterious | None | None | None | None | N |
| A/K | 0.9349 | likely_pathogenic | 0.9805 | pathogenic | -1.164 | Destabilizing | 0.842 | D | 0.754 | deleterious | None | None | None | None | N |
| A/L | 0.2972 | likely_benign | 0.472 | ambiguous | 0.184 | Stabilizing | 0.728 | D | 0.744 | deleterious | None | None | None | None | N |
| A/M | 0.4425 | ambiguous | 0.639 | pathogenic | -0.007 | Destabilizing | 0.998 | D | 0.735 | prob.delet. | None | None | None | None | N |
| A/N | 0.8098 | likely_pathogenic | 0.939 | pathogenic | -1.485 | Destabilizing | 0.949 | D | 0.783 | deleterious | None | None | None | None | N |
| A/P | 0.4207 | ambiguous | 0.7058 | pathogenic | -0.197 | Destabilizing | 0.013 | N | 0.518 | neutral | None | None | None | None | N |
| A/Q | 0.821 | likely_pathogenic | 0.9269 | pathogenic | -1.265 | Destabilizing | 0.974 | D | 0.787 | deleterious | None | None | None | None | N |
| A/R | 0.8585 | likely_pathogenic | 0.9473 | pathogenic | -1.304 | Destabilizing | 0.974 | D | 0.777 | deleterious | None | None | None | None | N |
| A/S | 0.1923 | likely_benign | 0.2687 | benign | -1.828 | Destabilizing | 0.285 | N | 0.52 | neutral | None | None | None | None | N |
| A/T | 0.1599 | likely_benign | 0.169 | benign | -1.519 | Destabilizing | 0.233 | N | 0.548 | neutral | None | None | None | None | N |
| A/V | 0.1581 | likely_benign | 0.2819 | benign | -0.197 | Destabilizing | 0.669 | D | 0.724 | prob.delet. | None | None | None | None | N |
| A/W | 0.9262 | likely_pathogenic | 0.9678 | pathogenic | -1.514 | Destabilizing | 0.998 | D | 0.775 | deleterious | None | None | None | None | N |
| A/Y | 0.7967 | likely_pathogenic | 0.9007 | pathogenic | -0.983 | Destabilizing | 0.991 | D | 0.761 | 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.