Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 8310 | 25153;25154;25155 | chr2:178718078;178718077;178718076 | chr2:179582805;179582804;179582803 |
| N2AB | 7993 | 24202;24203;24204 | chr2:178718078;178718077;178718076 | chr2:179582805;179582804;179582803 |
| N2A | 7066 | 21421;21422;21423 | chr2:178718078;178718077;178718076 | chr2:179582805;179582804;179582803 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/C | rs879064808  |
-1.504 | 0.27 | N | 0.421 | 0.371 | 0.507987536778 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| Y/C | rs879064808 |
-1.504 | 0.27 | N | 0.421 | 0.371 | 0.507987536778 | gnomAD-4.0.0 | 3.42137E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79903E-06 | 3.4781E-05 | 0 |
| Y/H | None | None | 0.046 | D | 0.313 | 0.319 | 0.370608029945 | gnomAD-4.0.0 | 6.84287E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99525E-07 | 0 | 0 |
| Y/N | rs397517511 |
-2.546 | 0.987 | N | 0.628 | 0.513 | 0.837140343473 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.66963E-04 | None | 0 | None | 0 | 0 | 0 |
| Y/N | rs397517511 |
-2.546 | 0.987 | N | 0.628 | 0.513 | 0.837140343473 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 3.85505E-04 | None | 0 | 0 | 0 | 0 | 0 |
| Y/N | rs397517511 |
-2.546 | 0.987 | N | 0.628 | 0.513 | 0.837140343473 | gnomAD-4.0.0 | 4.33831E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.11403E-04 | None | 0 | 0 | 0 | 0 | 3.20236E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/A | 0.5979 | likely_pathogenic | 0.7063 | pathogenic | -2.654 | Highly Destabilizing | 0.967 | D | 0.565 | neutral | None | None | None | None | N |
| Y/C | 0.1078 | likely_benign | 0.1556 | benign | -1.44 | Destabilizing | 0.27 | N | 0.421 | neutral | N | 0.504561188 | None | None | N |
| Y/D | 0.7732 | likely_pathogenic | 0.8576 | pathogenic | -1.768 | Destabilizing | 0.994 | D | 0.67 | neutral | N | 0.495193119 | None | None | N |
| Y/E | 0.8725 | likely_pathogenic | 0.9244 | pathogenic | -1.657 | Destabilizing | 0.99 | D | 0.591 | neutral | None | None | None | None | N |
| Y/F | 0.1064 | likely_benign | 0.1241 | benign | -1.255 | Destabilizing | 0.008 | N | 0.283 | neutral | N | 0.490980848 | None | None | N |
| Y/G | 0.6036 | likely_pathogenic | 0.7076 | pathogenic | -3.021 | Highly Destabilizing | 0.995 | D | 0.617 | neutral | None | None | None | None | N |
| Y/H | 0.3683 | ambiguous | 0.501 | ambiguous | -1.636 | Destabilizing | 0.046 | N | 0.313 | neutral | D | 0.528557801 | None | None | N |
| Y/I | 0.4451 | ambiguous | 0.5612 | ambiguous | -1.505 | Destabilizing | 0.667 | D | 0.516 | neutral | None | None | None | None | N |
| Y/K | 0.8431 | likely_pathogenic | 0.9079 | pathogenic | -1.686 | Destabilizing | 0.962 | D | 0.611 | neutral | None | None | None | None | N |
| Y/L | 0.4384 | ambiguous | 0.5544 | ambiguous | -1.505 | Destabilizing | 0.364 | N | 0.527 | neutral | None | None | None | None | N |
| Y/M | 0.5969 | likely_pathogenic | 0.69 | pathogenic | -1.161 | Destabilizing | 0.996 | D | 0.541 | neutral | None | None | None | None | N |
| Y/N | 0.4197 | ambiguous | 0.5365 | ambiguous | -2.062 | Highly Destabilizing | 0.987 | D | 0.628 | neutral | N | 0.506295935 | None | None | N |
| Y/P | 0.9605 | likely_pathogenic | 0.9763 | pathogenic | -1.889 | Destabilizing | 0.998 | D | 0.694 | prob.neutral | None | None | None | None | N |
| Y/Q | 0.7307 | likely_pathogenic | 0.8374 | pathogenic | -1.935 | Destabilizing | 0.984 | D | 0.571 | neutral | None | None | None | None | N |
| Y/R | 0.6881 | likely_pathogenic | 0.7966 | pathogenic | -1.32 | Destabilizing | 0.989 | D | 0.645 | neutral | None | None | None | None | N |
| Y/S | 0.3367 | likely_benign | 0.4293 | ambiguous | -2.547 | Highly Destabilizing | 0.994 | D | 0.583 | neutral | N | 0.505535466 | None | None | N |
| Y/T | 0.5041 | ambiguous | 0.6302 | pathogenic | -2.324 | Highly Destabilizing | 0.995 | D | 0.579 | neutral | None | None | None | None | N |
| Y/V | 0.3015 | likely_benign | 0.3925 | ambiguous | -1.889 | Destabilizing | 0.936 | D | 0.493 | neutral | None | None | None | None | N |
| Y/W | 0.4291 | ambiguous | 0.5004 | ambiguous | -0.854 | Destabilizing | 0.999 | D | 0.481 | neutral | 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.