Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 1103 | 3532;3533;3534 | chr2:178782285;178782284;178782283 | chr2:179647012;179647011;179647010 |
| N2AB | 1103 | 3532;3533;3534 | chr2:178782285;178782284;178782283 | chr2:179647012;179647011;179647010 |
| N2A | 1103 | 3532;3533;3534 | chr2:178782285;178782284;178782283 | chr2:179647012;179647011;179647010 |
| N2B | 1057 | 3394;3395;3396 | chr2:178782285;178782284;178782283 | chr2:179647012;179647011;179647010 |
| Novex-1 | 1057 | 3394;3395;3396 | chr2:178782285;178782284;178782283 | chr2:179647012;179647011;179647010 |
| Novex-2 | 1057 | 3394;3395;3396 | chr2:178782285;178782284;178782283 | chr2:179647012;179647011;179647010 |
| Novex-3 | 1103 | 3532;3533;3534 | chr2:178782285;178782284;178782283 | chr2:179647012;179647011;179647010 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/G | None | None | 1.0 | D | 0.899 | 0.739 | 0.822118996963 | gnomAD-4.0.0 | 1.5905E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85649E-06 | 0 | 0 |
| C/Y | None | None | 1.0 | D | 0.927 | 0.709 | 0.768810578512 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 6.07533E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/A | 0.9346 | likely_pathogenic | 0.9266 | pathogenic | -1.961 | Destabilizing | 0.998 | D | 0.725 | prob.delet. | None | None | None | None | N |
| C/D | 0.9996 | likely_pathogenic | 0.9995 | pathogenic | -1.619 | Destabilizing | 1.0 | D | 0.913 | deleterious | None | None | None | None | N |
| C/E | 0.9997 | likely_pathogenic | 0.9997 | pathogenic | -1.396 | Destabilizing | 1.0 | D | 0.925 | deleterious | None | None | None | None | N |
| C/F | 0.8906 | likely_pathogenic | 0.8991 | pathogenic | -1.287 | Destabilizing | 1.0 | D | 0.913 | deleterious | D | 0.659635233 | None | None | N |
| C/G | 0.8806 | likely_pathogenic | 0.8705 | pathogenic | -2.339 | Highly Destabilizing | 1.0 | D | 0.899 | deleterious | D | 0.5393603 | None | None | N |
| C/H | 0.9987 | likely_pathogenic | 0.9988 | pathogenic | -2.523 | Highly Destabilizing | 1.0 | D | 0.921 | deleterious | None | None | None | None | N |
| C/I | 0.9287 | likely_pathogenic | 0.9247 | pathogenic | -0.934 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| C/K | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -1.392 | Destabilizing | 1.0 | D | 0.912 | deleterious | None | None | None | None | N |
| C/L | 0.9335 | likely_pathogenic | 0.9298 | pathogenic | -0.934 | Destabilizing | 0.999 | D | 0.779 | deleterious | None | None | None | None | N |
| C/M | 0.9741 | likely_pathogenic | 0.9738 | pathogenic | 0.26 | Stabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | N |
| C/N | 0.9979 | likely_pathogenic | 0.9979 | pathogenic | -1.942 | Destabilizing | 1.0 | D | 0.923 | deleterious | None | None | None | None | N |
| C/P | 0.9995 | likely_pathogenic | 0.9996 | pathogenic | -1.253 | Destabilizing | 1.0 | D | 0.925 | deleterious | None | None | None | None | N |
| C/Q | 0.9993 | likely_pathogenic | 0.9993 | pathogenic | -1.527 | Destabilizing | 1.0 | D | 0.939 | deleterious | None | None | None | None | N |
| C/R | 0.9986 | likely_pathogenic | 0.9985 | pathogenic | -1.671 | Destabilizing | 1.0 | D | 0.93 | deleterious | D | 0.698890473 | None | None | N |
| C/S | 0.9587 | likely_pathogenic | 0.961 | pathogenic | -2.308 | Highly Destabilizing | 1.0 | D | 0.833 | deleterious | D | 0.659635233 | None | None | N |
| C/T | 0.9679 | likely_pathogenic | 0.9687 | pathogenic | -1.887 | Destabilizing | 1.0 | D | 0.838 | deleterious | None | None | None | None | N |
| C/V | 0.8557 | likely_pathogenic | 0.8449 | pathogenic | -1.253 | Destabilizing | 0.999 | D | 0.801 | deleterious | None | None | None | None | N |
| C/W | 0.9947 | likely_pathogenic | 0.9953 | pathogenic | -1.594 | Destabilizing | 1.0 | D | 0.908 | deleterious | D | 0.698890473 | None | None | N |
| C/Y | 0.988 | likely_pathogenic | 0.9898 | pathogenic | -1.466 | Destabilizing | 1.0 | D | 0.927 | deleterious | D | 0.659635233 | 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.