Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23929 | 72010;72011;72012 | chr2:178574347;178574346;178574345 | chr2:179439074;179439073;179439072 |
| N2AB | 22288 | 67087;67088;67089 | chr2:178574347;178574346;178574345 | chr2:179439074;179439073;179439072 |
| N2A | 21361 | 64306;64307;64308 | chr2:178574347;178574346;178574345 | chr2:179439074;179439073;179439072 |
| N2B | 14864 | 44815;44816;44817 | chr2:178574347;178574346;178574345 | chr2:179439074;179439073;179439072 |
| Novex-1 | 14989 | 45190;45191;45192 | chr2:178574347;178574346;178574345 | chr2:179439074;179439073;179439072 |
| Novex-2 | 15056 | 45391;45392;45393 | chr2:178574347;178574346;178574345 | chr2:179439074;179439073;179439072 |
| 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/R | rs969302991  |
-0.924 | 1.0 | N | 0.836 | 0.475 | 0.620070164782 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 4.64E-05 | 8.89E-06 | 0 |
| G/R | rs969302991 |
-0.924 | 1.0 | N | 0.836 | 0.475 | 0.620070164782 | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 5.88E-05 | 0 | 0 |
| G/R | rs969302991 |
-0.924 | 1.0 | N | 0.836 | 0.475 | 0.620070164782 | gnomAD-4.0.0 | 3.03713E-05 | None | None | None | None | N | None | 0 | 5.003E-05 | None | 0 | 0 | None | 3.12539E-05 | 0 | 3.72991E-05 | 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 | 0.2757 | likely_benign | 0.293 | benign | -0.785 | Destabilizing | 0.997 | D | 0.537 | neutral | N | 0.489068193 | None | None | N |
| G/C | 0.46 | ambiguous | 0.454 | ambiguous | -0.993 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| G/D | 0.6333 | likely_pathogenic | 0.5897 | pathogenic | -1.557 | Destabilizing | 1.0 | D | 0.786 | deleterious | None | None | None | None | N |
| G/E | 0.5031 | ambiguous | 0.5062 | ambiguous | -1.558 | Destabilizing | 1.0 | D | 0.806 | deleterious | N | 0.473201982 | None | None | N |
| G/F | 0.8996 | likely_pathogenic | 0.9043 | pathogenic | -1.009 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| G/H | 0.7636 | likely_pathogenic | 0.737 | pathogenic | -1.618 | Destabilizing | 1.0 | D | 0.826 | deleterious | None | None | None | None | N |
| G/I | 0.764 | likely_pathogenic | 0.7872 | pathogenic | -0.212 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| G/K | 0.6841 | likely_pathogenic | 0.6822 | pathogenic | -1.374 | Destabilizing | 1.0 | D | 0.814 | deleterious | None | None | None | None | N |
| G/L | 0.7455 | likely_pathogenic | 0.7491 | pathogenic | -0.212 | Destabilizing | 1.0 | D | 0.83 | deleterious | None | None | None | None | N |
| G/M | 0.7941 | likely_pathogenic | 0.7985 | pathogenic | -0.2 | Destabilizing | 1.0 | D | 0.836 | deleterious | None | None | None | None | N |
| G/N | 0.6505 | likely_pathogenic | 0.6242 | pathogenic | -1.163 | Destabilizing | 1.0 | D | 0.704 | prob.neutral | None | None | None | None | N |
| G/P | 0.9744 | likely_pathogenic | 0.9701 | pathogenic | -0.36 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| G/Q | 0.554 | ambiguous | 0.5554 | ambiguous | -1.259 | Destabilizing | 1.0 | D | 0.83 | deleterious | None | None | None | None | N |
| G/R | 0.5338 | ambiguous | 0.5474 | ambiguous | -1.163 | Destabilizing | 1.0 | D | 0.836 | deleterious | N | 0.486786787 | None | None | N |
| G/S | 0.1637 | likely_benign | 0.1619 | benign | -1.43 | Destabilizing | 0.986 | D | 0.512 | neutral | None | None | None | None | N |
| G/T | 0.3909 | ambiguous | 0.3753 | ambiguous | -1.345 | Destabilizing | 0.999 | D | 0.783 | deleterious | None | None | None | None | N |
| G/V | 0.5869 | likely_pathogenic | 0.6099 | pathogenic | -0.36 | Destabilizing | 1.0 | D | 0.841 | deleterious | N | 0.491892576 | None | None | N |
| G/W | 0.8498 | likely_pathogenic | 0.8432 | pathogenic | -1.515 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| G/Y | 0.8305 | likely_pathogenic | 0.832 | pathogenic | -1.042 | Destabilizing | 1.0 | D | 0.832 | 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.