Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9496 | 28711;28712;28713 | chr2:178709833;178709832;178709831 | chr2:179574560;179574559;179574558 |
| N2AB | 9179 | 27760;27761;27762 | chr2:178709833;178709832;178709831 | chr2:179574560;179574559;179574558 |
| N2A | 8252 | 24979;24980;24981 | chr2:178709833;178709832;178709831 | chr2:179574560;179574559;179574558 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/N | None | None | 0.999 | None | 0.624 | 0.284 | 0.366466682447 | gnomAD-4.0.0 | 6.84967E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.00103E-07 | 0 | 0 |
| T/P | rs1397154421  |
-0.63 | 1.0 | None | 0.755 | 0.422 | 0.370608029945 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.87E-06 | 0 |
| T/P | rs1397154421 |
-0.63 | 1.0 | None | 0.755 | 0.422 | 0.370608029945 | gnomAD-4.0.0 | 4.79488E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 6.30102E-06 | 0 | 0 |
| T/S | None | None | 0.996 | None | 0.451 | 0.2 | 0.170165803431 | gnomAD-4.0.0 | 6.84967E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.00103E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.2205 | likely_benign | 0.3084 | benign | -0.46 | Destabilizing | 0.998 | D | 0.447 | neutral | None | None | None | None | N |
| T/C | 0.744 | likely_pathogenic | 0.8412 | pathogenic | -0.329 | Destabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | None | N |
| T/D | 0.8184 | likely_pathogenic | 0.9088 | pathogenic | 0.429 | Stabilizing | 0.504 | D | 0.337 | neutral | None | None | None | None | N |
| T/E | 0.6643 | likely_pathogenic | 0.7966 | pathogenic | 0.374 | Stabilizing | 0.994 | D | 0.578 | neutral | None | None | None | None | N |
| T/F | 0.5927 | likely_pathogenic | 0.7473 | pathogenic | -0.841 | Destabilizing | 1.0 | D | 0.826 | deleterious | None | None | None | None | N |
| T/G | 0.5067 | ambiguous | 0.6505 | pathogenic | -0.621 | Destabilizing | 0.998 | D | 0.637 | neutral | None | None | None | None | N |
| T/H | 0.612 | likely_pathogenic | 0.7537 | pathogenic | -0.84 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| T/I | 0.3088 | likely_benign | 0.4825 | ambiguous | -0.151 | Destabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | N |
| T/K | 0.5054 | ambiguous | 0.6944 | pathogenic | -0.343 | Destabilizing | 1.0 | D | 0.689 | prob.neutral | None | None | None | None | N |
| T/L | 0.1834 | likely_benign | 0.2737 | benign | -0.151 | Destabilizing | 1.0 | D | 0.618 | neutral | None | None | None | None | N |
| T/M | 0.189 | likely_benign | 0.2467 | benign | -0.034 | Destabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | N |
| T/N | 0.3218 | likely_benign | 0.5 | ambiguous | -0.184 | Destabilizing | 0.999 | D | 0.624 | neutral | None | None | None | None | N |
| T/P | 0.3727 | ambiguous | 0.5628 | ambiguous | -0.224 | Destabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | N |
| T/Q | 0.4418 | ambiguous | 0.5971 | pathogenic | -0.369 | Destabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | N |
| T/R | 0.4613 | ambiguous | 0.6446 | pathogenic | -0.093 | Destabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | N |
| T/S | 0.2168 | likely_benign | 0.2961 | benign | -0.469 | Destabilizing | 0.996 | D | 0.451 | neutral | None | None | None | None | N |
| T/V | 0.2359 | likely_benign | 0.3671 | ambiguous | -0.224 | Destabilizing | 1.0 | D | 0.522 | neutral | None | None | None | None | N |
| T/W | 0.8753 | likely_pathogenic | 0.9304 | pathogenic | -0.817 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| T/Y | 0.6596 | likely_pathogenic | 0.8281 | pathogenic | -0.544 | Destabilizing | 1.0 | D | 0.825 | 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.