Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3272 | 10039;10040;10041 | chr2:178764701;178764700;178764699 | chr2:179629428;179629427;179629426 |
| N2AB | 3272 | 10039;10040;10041 | chr2:178764701;178764700;178764699 | chr2:179629428;179629427;179629426 |
| N2A | 3272 | 10039;10040;10041 | chr2:178764701;178764700;178764699 | chr2:179629428;179629427;179629426 |
| N2B | 3226 | 9901;9902;9903 | chr2:178764701;178764700;178764699 | chr2:179629428;179629427;179629426 |
| Novex-1 | 3226 | 9901;9902;9903 | chr2:178764701;178764700;178764699 | chr2:179629428;179629427;179629426 |
| Novex-2 | 3226 | 9901;9902;9903 | chr2:178764701;178764700;178764699 | chr2:179629428;179629427;179629426 |
| Novex-3 | 3272 | 10039;10040;10041 | chr2:178764701;178764700;178764699 | chr2:179629428;179629427;179629426 |
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 | rs1296156744  |
-1.042 | 1.0 | D | 0.796 | 0.933 | 0.861801042988 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 0 | 1.17924E-03 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| W/C | rs1296156744 |
-1.042 | 1.0 | D | 0.796 | 0.933 | 0.861801042988 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| W/C | rs1296156744 |
-1.042 | 1.0 | D | 0.796 | 0.933 | 0.861801042988 | gnomAD-4.0.0 | 6.57255E-06 | None | None | None | None | N | None | 0 | 6.5505E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| W/R | None | None | 1.0 | D | 0.878 | 0.952 | 0.932409099026 | gnomAD-4.0.0 | 2.05222E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.6979E-06 | 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 | 0.9956 | likely_pathogenic | 0.9983 | pathogenic | -2.464 | Highly Destabilizing | 1.0 | D | 0.856 | deleterious | None | None | None | None | N |
| W/C | 0.9957 | likely_pathogenic | 0.9988 | pathogenic | -1.211 | Destabilizing | 1.0 | D | 0.796 | deleterious | D | 0.754907656 | None | None | N |
| W/D | 0.9998 | likely_pathogenic | 0.9999 | pathogenic | -2.996 | Highly Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | N |
| W/E | 0.9997 | likely_pathogenic | 0.9999 | pathogenic | -2.855 | Highly Destabilizing | 1.0 | D | 0.85 | deleterious | None | None | None | None | N |
| W/F | 0.577 | likely_pathogenic | 0.698 | pathogenic | -1.447 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| W/G | 0.9877 | likely_pathogenic | 0.9945 | pathogenic | -2.725 | Highly Destabilizing | 1.0 | D | 0.807 | deleterious | D | 0.754907656 | None | None | N |
| W/H | 0.9981 | likely_pathogenic | 0.999 | pathogenic | -2.067 | Highly Destabilizing | 1.0 | D | 0.83 | deleterious | None | None | None | None | N |
| W/I | 0.9772 | likely_pathogenic | 0.9898 | pathogenic | -1.486 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| W/K | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -2.102 | Highly Destabilizing | 1.0 | D | 0.848 | deleterious | None | None | None | None | N |
| W/L | 0.9535 | likely_pathogenic | 0.979 | pathogenic | -1.486 | Destabilizing | 1.0 | D | 0.807 | deleterious | D | 0.711170676 | None | None | N |
| W/M | 0.9925 | likely_pathogenic | 0.997 | pathogenic | -1.042 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | N |
| W/N | 0.9997 | likely_pathogenic | 0.9999 | pathogenic | -2.877 | Highly Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| W/P | 0.9994 | likely_pathogenic | 0.9996 | pathogenic | -1.84 | Destabilizing | 1.0 | D | 0.886 | deleterious | None | None | None | None | N |
| W/Q | 0.9998 | likely_pathogenic | 0.9999 | pathogenic | -2.594 | Highly Destabilizing | 1.0 | D | 0.856 | deleterious | None | None | None | None | N |
| W/R | 0.9994 | likely_pathogenic | 0.9998 | pathogenic | -2.173 | Highly Destabilizing | 1.0 | D | 0.878 | deleterious | D | 0.754907656 | None | None | N |
| W/S | 0.9962 | likely_pathogenic | 0.9986 | pathogenic | -2.967 | Highly Destabilizing | 1.0 | D | 0.851 | deleterious | D | 0.754907656 | None | None | N |
| W/T | 0.9969 | likely_pathogenic | 0.9987 | pathogenic | -2.744 | Highly Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| W/V | 0.9762 | likely_pathogenic | 0.9909 | pathogenic | -1.84 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| W/Y | 0.9458 | likely_pathogenic | 0.9699 | pathogenic | -1.276 | Destabilizing | 1.0 | D | 0.804 | 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.