Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18079 | 54460;54461;54462 | chr2:178604854;178604853;178604852 | chr2:179469581;179469580;179469579 |
| N2AB | 16438 | 49537;49538;49539 | chr2:178604854;178604853;178604852 | chr2:179469581;179469580;179469579 |
| N2A | 15511 | 46756;46757;46758 | chr2:178604854;178604853;178604852 | chr2:179469581;179469580;179469579 |
| N2B | 9014 | 27265;27266;27267 | chr2:178604854;178604853;178604852 | chr2:179469581;179469580;179469579 |
| Novex-1 | 9139 | 27640;27641;27642 | chr2:178604854;178604853;178604852 | chr2:179469581;179469580;179469579 |
| Novex-2 | 9206 | 27841;27842;27843 | chr2:178604854;178604853;178604852 | chr2:179469581;179469580;179469579 |
| 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/G | rs375807843  |
-1.314 | 1.0 | N | 0.593 | 0.266 | None | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.91E-06 | 0 |
| A/G | rs375807843 |
-1.314 | 1.0 | N | 0.593 | 0.266 | None | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| A/G | rs375807843 |
-1.314 | 1.0 | N | 0.593 | 0.266 | None | gnomAD-4.0.0 | 1.86073E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.54449E-06 | 0 | 0 |
| A/T | rs777598789 |
-1.137 | 1.0 | N | 0.765 | 0.327 | 0.368743488249 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| A/T | rs777598789 |
-1.137 | 1.0 | N | 0.765 | 0.327 | 0.368743488249 | gnomAD-4.0.0 | 1.59428E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43493E-05 | 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 | 0.7121 | likely_pathogenic | 0.7211 | pathogenic | -1.044 | Destabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | N |
| A/D | 0.7574 | likely_pathogenic | 0.7521 | pathogenic | -1.911 | Destabilizing | 1.0 | D | 0.801 | deleterious | N | 0.480443276 | None | None | N |
| A/E | 0.5547 | ambiguous | 0.5679 | pathogenic | -1.976 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| A/F | 0.7716 | likely_pathogenic | 0.7623 | pathogenic | -1.274 | Destabilizing | 1.0 | D | 0.804 | deleterious | None | None | None | None | N |
| A/G | 0.2413 | likely_benign | 0.2145 | benign | -1.254 | Destabilizing | 1.0 | D | 0.593 | neutral | N | 0.475672174 | None | None | N |
| A/H | 0.8227 | likely_pathogenic | 0.8064 | pathogenic | -1.274 | Destabilizing | 1.0 | D | 0.772 | deleterious | None | None | None | None | N |
| A/I | 0.6524 | likely_pathogenic | 0.6667 | pathogenic | -0.668 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| A/K | 0.7546 | likely_pathogenic | 0.7249 | pathogenic | -1.295 | Destabilizing | 1.0 | D | 0.812 | deleterious | None | None | None | None | N |
| A/L | 0.5009 | ambiguous | 0.4936 | ambiguous | -0.668 | Destabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | N |
| A/M | 0.4646 | ambiguous | 0.4628 | ambiguous | -0.478 | Destabilizing | 1.0 | D | 0.768 | deleterious | None | None | None | None | N |
| A/N | 0.5501 | ambiguous | 0.5281 | ambiguous | -1.07 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| A/P | 0.6767 | likely_pathogenic | 0.5703 | pathogenic | -0.76 | Destabilizing | 1.0 | D | 0.819 | deleterious | N | 0.48925476 | None | None | N |
| A/Q | 0.5609 | ambiguous | 0.5557 | ambiguous | -1.356 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| A/R | 0.6899 | likely_pathogenic | 0.6596 | pathogenic | -0.802 | Destabilizing | 1.0 | D | 0.824 | deleterious | None | None | None | None | N |
| A/S | 0.1243 | likely_benign | 0.1203 | benign | -1.305 | Destabilizing | 1.0 | D | 0.583 | neutral | N | 0.467972624 | None | None | N |
| A/T | 0.2246 | likely_benign | 0.2164 | benign | -1.305 | Destabilizing | 1.0 | D | 0.765 | deleterious | N | 0.471773632 | None | None | N |
| A/V | 0.3476 | ambiguous | 0.3647 | ambiguous | -0.76 | Destabilizing | 1.0 | D | 0.688 | prob.neutral | N | 0.477030778 | None | None | N |
| A/W | 0.9376 | likely_pathogenic | 0.9306 | pathogenic | -1.534 | Destabilizing | 1.0 | D | 0.746 | deleterious | None | None | None | None | N |
| A/Y | 0.8082 | likely_pathogenic | 0.8016 | pathogenic | -1.187 | Destabilizing | 1.0 | D | 0.795 | 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.