Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20564 | 61915;61916;61917 | chr2:178590035;178590034;178590033 | chr2:179454762;179454761;179454760 |
| N2AB | 18923 | 56992;56993;56994 | chr2:178590035;178590034;178590033 | chr2:179454762;179454761;179454760 |
| N2A | 17996 | 54211;54212;54213 | chr2:178590035;178590034;178590033 | chr2:179454762;179454761;179454760 |
| N2B | 11499 | 34720;34721;34722 | chr2:178590035;178590034;178590033 | chr2:179454762;179454761;179454760 |
| Novex-1 | 11624 | 35095;35096;35097 | chr2:178590035;178590034;178590033 | chr2:179454762;179454761;179454760 |
| Novex-2 | 11691 | 35296;35297;35298 | chr2:178590035;178590034;178590033 | chr2:179454762;179454761;179454760 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/I | rs761270633  |
-0.465 | 0.999 | N | 0.557 | 0.286 | 0.506552580704 | gnomAD-2.1.1 | 1.61E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.12309E-04 | None | 0 | None | 4.66E-05 | 8.92E-06 | 0 |
| V/I | rs761270633 |
-0.465 | 0.999 | N | 0.557 | 0.286 | 0.506552580704 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| V/I | rs761270633 |
-0.465 | 0.999 | N | 0.557 | 0.286 | 0.506552580704 | gnomAD-4.0.0 | 7.43964E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 4.68809E-05 | 0 | 7.63083E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.9339 | likely_pathogenic | 0.9436 | pathogenic | -2.106 | Highly Destabilizing | 0.999 | D | 0.646 | neutral | N | 0.501391414 | None | None | N |
| V/C | 0.9725 | likely_pathogenic | 0.9718 | pathogenic | -1.627 | Destabilizing | 1.0 | D | 0.834 | deleterious | None | None | None | None | N |
| V/D | 0.9995 | likely_pathogenic | 0.9996 | pathogenic | -2.94 | Highly Destabilizing | 1.0 | D | 0.866 | deleterious | N | 0.520002648 | None | None | N |
| V/E | 0.998 | likely_pathogenic | 0.9981 | pathogenic | -2.68 | Highly Destabilizing | 1.0 | D | 0.874 | deleterious | None | None | None | None | N |
| V/F | 0.9264 | likely_pathogenic | 0.9315 | pathogenic | -1.236 | Destabilizing | 1.0 | D | 0.834 | deleterious | N | 0.486641294 | None | None | N |
| V/G | 0.9748 | likely_pathogenic | 0.9797 | pathogenic | -2.678 | Highly Destabilizing | 1.0 | D | 0.864 | deleterious | N | 0.520002648 | None | None | N |
| V/H | 0.9994 | likely_pathogenic | 0.9994 | pathogenic | -2.565 | Highly Destabilizing | 1.0 | D | 0.868 | deleterious | None | None | None | None | N |
| V/I | 0.1324 | likely_benign | 0.1328 | benign | -0.485 | Destabilizing | 0.999 | D | 0.557 | neutral | N | 0.516990361 | None | None | N |
| V/K | 0.9983 | likely_pathogenic | 0.9984 | pathogenic | -1.757 | Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| V/L | 0.7393 | likely_pathogenic | 0.7587 | pathogenic | -0.485 | Destabilizing | 0.999 | D | 0.666 | neutral | N | 0.450593931 | None | None | N |
| V/M | 0.8937 | likely_pathogenic | 0.8988 | pathogenic | -0.605 | Destabilizing | 1.0 | D | 0.788 | deleterious | None | None | None | None | N |
| V/N | 0.9982 | likely_pathogenic | 0.9984 | pathogenic | -2.225 | Highly Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| V/P | 0.9976 | likely_pathogenic | 0.9977 | pathogenic | -1.001 | Destabilizing | 1.0 | D | 0.868 | deleterious | None | None | None | None | N |
| V/Q | 0.9972 | likely_pathogenic | 0.9975 | pathogenic | -1.985 | Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| V/R | 0.9956 | likely_pathogenic | 0.996 | pathogenic | -1.696 | Destabilizing | 1.0 | D | 0.874 | deleterious | None | None | None | None | N |
| V/S | 0.9902 | likely_pathogenic | 0.9917 | pathogenic | -2.802 | Highly Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| V/T | 0.9511 | likely_pathogenic | 0.9578 | pathogenic | -2.393 | Highly Destabilizing | 0.999 | D | 0.667 | neutral | None | None | None | None | N |
| V/W | 0.9993 | likely_pathogenic | 0.9993 | pathogenic | -1.849 | Destabilizing | 1.0 | D | 0.862 | deleterious | None | None | None | None | N |
| V/Y | 0.9968 | likely_pathogenic | 0.997 | pathogenic | -1.438 | Destabilizing | 1.0 | D | 0.826 | 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.