Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17071 | 51436;51437;51438 | chr2:178610315;178610314;178610313 | chr2:179475042;179475041;179475040 |
| N2AB | 15430 | 46513;46514;46515 | chr2:178610315;178610314;178610313 | chr2:179475042;179475041;179475040 |
| N2A | 14503 | 43732;43733;43734 | chr2:178610315;178610314;178610313 | chr2:179475042;179475041;179475040 |
| N2B | 8006 | 24241;24242;24243 | chr2:178610315;178610314;178610313 | chr2:179475042;179475041;179475040 |
| Novex-1 | 8131 | 24616;24617;24618 | chr2:178610315;178610314;178610313 | chr2:179475042;179475041;179475040 |
| Novex-2 | 8198 | 24817;24818;24819 | chr2:178610315;178610314;178610313 | chr2:179475042;179475041;179475040 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | None | None | 1.0 | D | 0.808 | 0.632 | 0.484691182572 | gnomAD-4.0.0 | 2.73829E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.525E-05 | None | 0 | 0 | 2.6996E-06 | 0 | 0 |
| P/L | None | None | 1.0 | D | 0.888 | 0.639 | 0.722483493429 | gnomAD-4.0.0 | 1.59324E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.4334E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.8667 | likely_pathogenic | 0.861 | pathogenic | -1.856 | Destabilizing | 1.0 | D | 0.808 | deleterious | D | 0.657129575 | None | None | N |
| P/C | 0.9864 | likely_pathogenic | 0.9846 | pathogenic | -1.043 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| P/D | 0.9987 | likely_pathogenic | 0.9985 | pathogenic | -2.156 | Highly Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| P/E | 0.9973 | likely_pathogenic | 0.9968 | pathogenic | -2.109 | Highly Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| P/F | 0.9997 | likely_pathogenic | 0.9996 | pathogenic | -1.373 | Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| P/G | 0.9878 | likely_pathogenic | 0.9866 | pathogenic | -2.23 | Highly Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | N |
| P/H | 0.9969 | likely_pathogenic | 0.9963 | pathogenic | -1.954 | Destabilizing | 1.0 | D | 0.858 | deleterious | None | None | None | None | N |
| P/I | 0.9957 | likely_pathogenic | 0.9953 | pathogenic | -0.886 | Destabilizing | 1.0 | D | 0.862 | deleterious | None | None | None | None | N |
| P/K | 0.9987 | likely_pathogenic | 0.9984 | pathogenic | -1.652 | Destabilizing | 1.0 | D | 0.82 | deleterious | None | None | None | None | N |
| P/L | 0.9776 | likely_pathogenic | 0.9762 | pathogenic | -0.886 | Destabilizing | 1.0 | D | 0.888 | deleterious | D | 0.721846944 | None | None | N |
| P/M | 0.9958 | likely_pathogenic | 0.9956 | pathogenic | -0.552 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| P/N | 0.9983 | likely_pathogenic | 0.9981 | pathogenic | -1.446 | Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | N |
| P/Q | 0.9957 | likely_pathogenic | 0.995 | pathogenic | -1.565 | Destabilizing | 1.0 | D | 0.811 | deleterious | D | 0.747197746 | None | None | N |
| P/R | 0.9957 | likely_pathogenic | 0.9944 | pathogenic | -1.154 | Destabilizing | 1.0 | D | 0.875 | deleterious | D | 0.653841465 | None | None | N |
| P/S | 0.9724 | likely_pathogenic | 0.9717 | pathogenic | -1.906 | Destabilizing | 1.0 | D | 0.826 | deleterious | D | 0.617887416 | None | None | N |
| P/T | 0.9701 | likely_pathogenic | 0.9694 | pathogenic | -1.756 | Destabilizing | 1.0 | D | 0.825 | deleterious | D | 0.708879564 | None | None | N |
| P/V | 0.9806 | likely_pathogenic | 0.979 | pathogenic | -1.179 | Destabilizing | 1.0 | D | 0.892 | deleterious | None | None | None | None | N |
| P/W | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -1.709 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| P/Y | 0.9997 | likely_pathogenic | 0.9996 | pathogenic | -1.425 | Destabilizing | 1.0 | D | 0.875 | 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.