Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 6495 | 19708;19709;19710 | chr2:178728341;178728340;178728339 | chr2:179593068;179593067;179593066 |
| N2AB | 6178 | 18757;18758;18759 | chr2:178728341;178728340;178728339 | chr2:179593068;179593067;179593066 |
| N2A | 5251 | 15976;15977;15978 | chr2:178728341;178728340;178728339 | chr2:179593068;179593067;179593066 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | rs182633829  |
-0.336 | 0.991 | D | 0.658 | 0.662 | None | gnomAD-2.1.1 | 4.13E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.67E-05 | None | 0 | None | 0 | 0 | 0 |
| G/A | rs182633829 |
-0.336 | 0.991 | D | 0.658 | 0.662 | None | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.92827E-04 | None | 0 | 0 | 0 | 0 | 0 |
| G/A | rs182633829 |
-0.336 | 0.991 | D | 0.658 | 0.662 | None | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 1E-03 | 0 | None | None | None | 0 | None |
| G/A | rs182633829 |
-0.336 | 0.991 | D | 0.658 | 0.662 | None | gnomAD-4.0.0 | 3.86666E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 7.30034E-05 | None | 0 | 0 | 0 | 0 | 0 |
| G/D | rs182633829 |
None | 0.999 | D | 0.763 | 0.644 | 0.687563720044 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/D | rs182633829 |
None | 0.999 | D | 0.763 | 0.644 | 0.687563720044 | gnomAD-4.0.0 | 6.57601E-06 | None | None | None | None | N | None | 2.41429E-05 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.3574 | ambiguous | 0.4137 | ambiguous | -0.254 | Destabilizing | 0.991 | D | 0.658 | neutral | D | 0.627076272 | None | None | N |
| G/C | 0.5593 | ambiguous | 0.6121 | pathogenic | -0.902 | Destabilizing | 1.0 | D | 0.749 | deleterious | D | 0.659720407 | None | None | N |
| G/D | 0.384 | ambiguous | 0.3096 | benign | -0.222 | Destabilizing | 0.999 | D | 0.763 | deleterious | D | 0.601781044 | None | None | N |
| G/E | 0.5057 | ambiguous | 0.5244 | ambiguous | -0.377 | Destabilizing | 0.998 | D | 0.737 | prob.delet. | None | None | None | None | N |
| G/F | 0.8318 | likely_pathogenic | 0.857 | pathogenic | -0.924 | Destabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | N |
| G/H | 0.6262 | likely_pathogenic | 0.6632 | pathogenic | -0.461 | Destabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | N |
| G/I | 0.8529 | likely_pathogenic | 0.8548 | pathogenic | -0.379 | Destabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | N |
| G/K | 0.7468 | likely_pathogenic | 0.7701 | pathogenic | -0.647 | Destabilizing | 0.996 | D | 0.725 | prob.delet. | None | None | None | None | N |
| G/L | 0.7814 | likely_pathogenic | 0.81 | pathogenic | -0.379 | Destabilizing | 0.998 | D | 0.732 | prob.delet. | None | None | None | None | N |
| G/M | 0.8571 | likely_pathogenic | 0.8801 | pathogenic | -0.42 | Destabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | N |
| G/N | 0.4517 | ambiguous | 0.4799 | ambiguous | -0.366 | Destabilizing | 0.998 | D | 0.74 | deleterious | None | None | None | None | N |
| G/P | 0.9604 | likely_pathogenic | 0.9644 | pathogenic | -0.304 | Destabilizing | 1.0 | D | 0.762 | deleterious | None | None | None | None | N |
| G/Q | 0.6043 | likely_pathogenic | 0.6275 | pathogenic | -0.62 | Destabilizing | 0.998 | D | 0.762 | deleterious | None | None | None | None | N |
| G/R | 0.5761 | likely_pathogenic | 0.6139 | pathogenic | -0.267 | Destabilizing | 0.652 | D | 0.643 | neutral | D | 0.617759326 | None | None | N |
| G/S | 0.2243 | likely_benign | 0.2476 | benign | -0.578 | Destabilizing | 0.997 | D | 0.733 | prob.delet. | D | 0.607836966 | None | None | N |
| G/T | 0.5561 | ambiguous | 0.5698 | pathogenic | -0.652 | Destabilizing | 0.998 | D | 0.737 | prob.delet. | None | None | None | None | N |
| G/V | 0.7344 | likely_pathogenic | 0.7426 | pathogenic | -0.304 | Destabilizing | 0.999 | D | 0.737 | prob.delet. | D | 0.633980491 | None | None | N |
| G/W | 0.7257 | likely_pathogenic | 0.7632 | pathogenic | -1.067 | Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | N |
| G/Y | 0.7069 | likely_pathogenic | 0.7485 | pathogenic | -0.712 | Destabilizing | 1.0 | D | 0.769 | 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.