Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33019 | 99280;99281;99282 | chr2:178538774;178538773;178538772 | chr2:179403501;179403500;179403499 |
| N2AB | 31378 | 94357;94358;94359 | chr2:178538774;178538773;178538772 | chr2:179403501;179403500;179403499 |
| N2A | 30451 | 91576;91577;91578 | chr2:178538774;178538773;178538772 | chr2:179403501;179403500;179403499 |
| N2B | 23954 | 72085;72086;72087 | chr2:178538774;178538773;178538772 | chr2:179403501;179403500;179403499 |
| Novex-1 | 24079 | 72460;72461;72462 | chr2:178538774;178538773;178538772 | chr2:179403501;179403500;179403499 |
| Novex-2 | 24146 | 72661;72662;72663 | chr2:178538774;178538773;178538772 | chr2:179403501;179403500;179403499 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/C | None | None | 1.0 | D | 0.853 | 0.7 | 0.826632325508 | gnomAD-4.0.0 | 1.20034E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 6.17284E-04 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/A | 0.9967 | likely_pathogenic | 0.9973 | pathogenic | -3.707 | Highly Destabilizing | 1.0 | D | 0.896 | deleterious | None | None | None | None | N |
| W/C | 0.9981 | likely_pathogenic | 0.9984 | pathogenic | -2.365 | Highly Destabilizing | 1.0 | D | 0.853 | deleterious | D | 0.682740402 | None | None | N |
| W/D | 0.9997 | likely_pathogenic | 0.9998 | pathogenic | -4.165 | Highly Destabilizing | 1.0 | D | 0.918 | deleterious | None | None | None | None | N |
| W/E | 0.9997 | likely_pathogenic | 0.9997 | pathogenic | -4.061 | Highly Destabilizing | 1.0 | D | 0.899 | deleterious | None | None | None | None | N |
| W/F | 0.7358 | likely_pathogenic | 0.7651 | pathogenic | -2.488 | Highly Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | N |
| W/G | 0.9844 | likely_pathogenic | 0.9871 | pathogenic | -3.933 | Highly Destabilizing | 1.0 | D | 0.846 | deleterious | D | 0.682740402 | None | None | N |
| W/H | 0.9986 | likely_pathogenic | 0.9988 | pathogenic | -2.904 | Highly Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| W/I | 0.9899 | likely_pathogenic | 0.9916 | pathogenic | -2.81 | Highly Destabilizing | 1.0 | D | 0.913 | deleterious | None | None | None | None | N |
| W/K | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -3.329 | Highly Destabilizing | 1.0 | D | 0.897 | deleterious | None | None | None | None | N |
| W/L | 0.9739 | likely_pathogenic | 0.9786 | pathogenic | -2.81 | Highly Destabilizing | 1.0 | D | 0.846 | deleterious | D | 0.640173908 | None | None | N |
| W/M | 0.9916 | likely_pathogenic | 0.9935 | pathogenic | -2.21 | Highly Destabilizing | 1.0 | D | 0.822 | deleterious | None | None | None | None | N |
| W/N | 0.9997 | likely_pathogenic | 0.9997 | pathogenic | -4.061 | Highly Destabilizing | 1.0 | D | 0.928 | deleterious | None | None | None | None | N |
| W/P | 0.9997 | likely_pathogenic | 0.9998 | pathogenic | -3.142 | Highly Destabilizing | 1.0 | D | 0.931 | deleterious | None | None | None | None | N |
| W/Q | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -3.909 | Highly Destabilizing | 1.0 | D | 0.898 | deleterious | None | None | None | None | N |
| W/R | 0.9996 | likely_pathogenic | 0.9997 | pathogenic | -2.915 | Highly Destabilizing | 1.0 | D | 0.919 | deleterious | D | 0.682740402 | None | None | N |
| W/S | 0.9974 | likely_pathogenic | 0.9979 | pathogenic | -4.144 | Highly Destabilizing | 1.0 | D | 0.9 | deleterious | D | 0.682740402 | None | None | N |
| W/T | 0.9975 | likely_pathogenic | 0.9981 | pathogenic | -3.971 | Highly Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | N |
| W/V | 0.9909 | likely_pathogenic | 0.9927 | pathogenic | -3.142 | Highly Destabilizing | 1.0 | D | 0.898 | deleterious | None | None | None | None | N |
| W/Y | 0.95 | likely_pathogenic | 0.9588 | pathogenic | -2.418 | Highly Destabilizing | 1.0 | D | 0.852 | 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.