Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 6746 | 20461;20462;20463 | chr2:178727129;178727128;178727127 | chr2:179591856;179591855;179591854 |
| N2AB | 6429 | 19510;19511;19512 | chr2:178727129;178727128;178727127 | chr2:179591856;179591855;179591854 |
| N2A | 5502 | 16729;16730;16731 | chr2:178727129;178727128;178727127 | chr2:179591856;179591855;179591854 |
| 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/S | rs202108224  |
-0.151 | 0.997 | N | 0.649 | 0.389 | 0.345859378078 | gnomAD-2.1.1 | 4.11E-06 | None | None | None | None | I | None | 0 | 2.99E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| A/S | rs202108224 |
-0.151 | 0.997 | N | 0.649 | 0.389 | 0.345859378078 | gnomAD-4.0.0 | 1.3843E-06 | None | None | None | None | I | None | 0 | 4.56684E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/T | rs202108224 |
-0.236 | 1.0 | D | 0.675 | 0.436 | None | gnomAD-2.1.1 | 3.27921E-04 | None | None | None | None | I | None | 3.25733E-03 | 2.03963E-04 | None | 0 | 0 | None | 6.8E-05 | None | 4.03E-05 | 1.59E-05 | 0 |
| A/T | rs202108224 |
-0.236 | 1.0 | D | 0.675 | 0.436 | None | gnomAD-3.1.2 | 7.23265E-04 | None | None | None | None | I | None | 2.50989E-03 | 1.96696E-04 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 2.06954E-04 | 4.78469E-04 |
| A/T | rs202108224 |
-0.236 | 1.0 | D | 0.675 | 0.436 | None | 1000 genomes | 1.99681E-04 | None | None | None | None | I | None | 0 | 1.4E-03 | None | None | 0 | 0 | None | None | None | 0 | None |
| A/T | rs202108224 |
-0.236 | 1.0 | D | 0.675 | 0.436 | None | gnomAD-4.0.0 | 1.459E-04 | None | None | None | None | I | None | 2.55984E-03 | 1.18511E-04 | None | 0 | 2.2485E-05 | None | 0 | 0 | 1.8815E-05 | 5.68169E-05 | 1.13426E-04 |
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 | 0.7609 | likely_pathogenic | 0.8048 | pathogenic | -0.806 | Destabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | None | I |
| A/D | 0.7828 | likely_pathogenic | 0.8276 | pathogenic | -0.57 | Destabilizing | 1.0 | D | 0.736 | prob.delet. | D | 0.527375931 | None | None | I |
| A/E | 0.6782 | likely_pathogenic | 0.7386 | pathogenic | -0.724 | Destabilizing | 1.0 | D | 0.701 | prob.neutral | None | None | None | None | I |
| A/F | 0.4712 | ambiguous | 0.5867 | pathogenic | -0.921 | Destabilizing | 1.0 | D | 0.762 | deleterious | None | None | None | None | I |
| A/G | 0.2998 | likely_benign | 0.3144 | benign | -0.256 | Destabilizing | 0.998 | D | 0.647 | neutral | N | 0.507243759 | None | None | I |
| A/H | 0.7769 | likely_pathogenic | 0.8445 | pathogenic | -0.245 | Destabilizing | 1.0 | D | 0.748 | deleterious | None | None | None | None | I |
| A/I | 0.4061 | ambiguous | 0.5008 | ambiguous | -0.395 | Destabilizing | 0.999 | D | 0.64 | neutral | None | None | None | None | I |
| A/K | 0.8704 | likely_pathogenic | 0.9082 | pathogenic | -0.604 | Destabilizing | 1.0 | D | 0.702 | prob.neutral | None | None | None | None | I |
| A/L | 0.4266 | ambiguous | 0.4952 | ambiguous | -0.395 | Destabilizing | 0.999 | D | 0.576 | neutral | None | None | None | None | I |
| A/M | 0.4564 | ambiguous | 0.5624 | ambiguous | -0.534 | Destabilizing | 1.0 | D | 0.713 | prob.delet. | None | None | None | None | I |
| A/N | 0.7115 | likely_pathogenic | 0.7636 | pathogenic | -0.284 | Destabilizing | 1.0 | D | 0.76 | deleterious | None | None | None | None | I |
| A/P | 0.9269 | likely_pathogenic | 0.9426 | pathogenic | -0.316 | Destabilizing | 1.0 | D | 0.707 | prob.neutral | D | 0.533959296 | None | None | I |
| A/Q | 0.7016 | likely_pathogenic | 0.7618 | pathogenic | -0.56 | Destabilizing | 1.0 | D | 0.717 | prob.delet. | None | None | None | None | I |
| A/R | 0.7689 | likely_pathogenic | 0.813 | pathogenic | -0.138 | Destabilizing | 1.0 | D | 0.715 | prob.delet. | None | None | None | None | I |
| A/S | 0.1527 | likely_benign | 0.1663 | benign | -0.457 | Destabilizing | 0.997 | D | 0.649 | neutral | N | 0.500647167 | None | None | I |
| A/T | 0.2277 | likely_benign | 0.305 | benign | -0.538 | Destabilizing | 1.0 | D | 0.675 | prob.neutral | D | 0.530663932 | None | None | I |
| A/V | 0.1762 | likely_benign | 0.2209 | benign | -0.316 | Destabilizing | 0.971 | D | 0.494 | neutral | N | 0.502043204 | None | None | I |
| A/W | 0.9052 | likely_pathogenic | 0.9464 | pathogenic | -1.033 | Destabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | I |
| A/Y | 0.7185 | likely_pathogenic | 0.8079 | pathogenic | -0.708 | Destabilizing | 1.0 | D | 0.762 | deleterious | None | None | None | None | I |
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.