Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21492 | 64699;64700;64701 | chr2:178585270;178585269;178585268 | chr2:179449997;179449996;179449995 |
| N2AB | 19851 | 59776;59777;59778 | chr2:178585270;178585269;178585268 | chr2:179449997;179449996;179449995 |
| N2A | 18924 | 56995;56996;56997 | chr2:178585270;178585269;178585268 | chr2:179449997;179449996;179449995 |
| N2B | 12427 | 37504;37505;37506 | chr2:178585270;178585269;178585268 | chr2:179449997;179449996;179449995 |
| Novex-1 | 12552 | 37879;37880;37881 | chr2:178585270;178585269;178585268 | chr2:179449997;179449996;179449995 |
| Novex-2 | 12619 | 38080;38081;38082 | chr2:178585270;178585269;178585268 | chr2:179449997;179449996;179449995 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/E | rs879135883  |
None | 1.0 | D | 0.798 | 0.591 | None | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 7.24E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/E | rs879135883 |
None | 1.0 | D | 0.798 | 0.591 | None | gnomAD-4.0.0 | 5.0755E-06 | None | None | None | None | N | None | 8.74065E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/R | None | None | 1.0 | D | 0.806 | 0.588 | 0.805673472657 | gnomAD-4.0.0 | 1.20033E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.31251E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.8822 | likely_pathogenic | 0.8719 | pathogenic | -0.535 | Destabilizing | 1.0 | D | 0.689 | prob.neutral | D | 0.565786599 | None | None | N |
| G/C | 0.9836 | likely_pathogenic | 0.981 | pathogenic | -0.581 | Destabilizing | 1.0 | D | 0.693 | prob.neutral | None | None | None | None | N |
| G/D | 0.9979 | likely_pathogenic | 0.9974 | pathogenic | -1.3 | Destabilizing | 1.0 | D | 0.83 | deleterious | None | None | None | None | N |
| G/E | 0.9985 | likely_pathogenic | 0.9982 | pathogenic | -1.419 | Destabilizing | 1.0 | D | 0.798 | deleterious | D | 0.633417952 | None | None | N |
| G/F | 0.9988 | likely_pathogenic | 0.9987 | pathogenic | -1.076 | Destabilizing | 1.0 | D | 0.762 | deleterious | None | None | None | None | N |
| G/H | 0.9993 | likely_pathogenic | 0.9991 | pathogenic | -1.167 | Destabilizing | 1.0 | D | 0.707 | prob.neutral | None | None | None | None | N |
| G/I | 0.9983 | likely_pathogenic | 0.9975 | pathogenic | -0.434 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | N |
| G/K | 0.9992 | likely_pathogenic | 0.999 | pathogenic | -1.332 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| G/L | 0.9976 | likely_pathogenic | 0.9968 | pathogenic | -0.434 | Destabilizing | 1.0 | D | 0.768 | deleterious | None | None | None | None | N |
| G/M | 0.9993 | likely_pathogenic | 0.999 | pathogenic | -0.319 | Destabilizing | 1.0 | D | 0.696 | prob.neutral | None | None | None | None | N |
| G/N | 0.9987 | likely_pathogenic | 0.9982 | pathogenic | -0.763 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| G/P | 0.9994 | likely_pathogenic | 0.9992 | pathogenic | -0.432 | Destabilizing | 1.0 | D | 0.798 | deleterious | None | None | None | None | N |
| G/Q | 0.9982 | likely_pathogenic | 0.9978 | pathogenic | -1.031 | Destabilizing | 1.0 | D | 0.804 | deleterious | None | None | None | None | N |
| G/R | 0.9955 | likely_pathogenic | 0.9949 | pathogenic | -0.882 | Destabilizing | 1.0 | D | 0.806 | deleterious | D | 0.621031068 | None | None | N |
| G/S | 0.9381 | likely_pathogenic | 0.917 | pathogenic | -0.817 | Destabilizing | 1.0 | D | 0.776 | deleterious | None | None | None | None | N |
| G/T | 0.9946 | likely_pathogenic | 0.9919 | pathogenic | -0.889 | Destabilizing | 1.0 | D | 0.8 | deleterious | None | None | None | None | N |
| G/V | 0.9957 | likely_pathogenic | 0.9945 | pathogenic | -0.432 | Destabilizing | 1.0 | D | 0.773 | deleterious | D | 0.637050429 | None | None | N |
| G/W | 0.9975 | likely_pathogenic | 0.9974 | pathogenic | -1.371 | Destabilizing | 1.0 | D | 0.694 | prob.neutral | None | None | None | None | N |
| G/Y | 0.9988 | likely_pathogenic | 0.9987 | pathogenic | -1.026 | Destabilizing | 1.0 | D | 0.754 | 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.