Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20566 | 61921;61922;61923 | chr2:178590029;178590028;178590027 | chr2:179454756;179454755;179454754 |
| N2AB | 18925 | 56998;56999;57000 | chr2:178590029;178590028;178590027 | chr2:179454756;179454755;179454754 |
| N2A | 17998 | 54217;54218;54219 | chr2:178590029;178590028;178590027 | chr2:179454756;179454755;179454754 |
| N2B | 11501 | 34726;34727;34728 | chr2:178590029;178590028;178590027 | chr2:179454756;179454755;179454754 |
| Novex-1 | 11626 | 35101;35102;35103 | chr2:178590029;178590028;178590027 | chr2:179454756;179454755;179454754 |
| Novex-2 | 11693 | 35302;35303;35304 | chr2:178590029;178590028;178590027 | chr2:179454756;179454755;179454754 |
| 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 | rs764777213  |
-0.047 | 0.999 | N | 0.739 | 0.517 | 0.84055731845 | gnomAD-2.1.1 | 7.52E-05 | None | None | None | None | I | None | 8.27E-05 | 2.26976E-04 | None | 0 | 0 | None | 0 | None | 0 | 8.62E-05 | 0 |
| V/I | rs764777213 |
-0.047 | 0.999 | N | 0.739 | 0.517 | 0.84055731845 | gnomAD-3.1.2 | 4.6E-05 | None | None | None | None | I | None | 4.83E-05 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 4.41E-05 | 0 | 4.79386E-04 |
| V/I | rs764777213 |
-0.047 | 0.999 | N | 0.739 | 0.517 | 0.84055731845 | gnomAD-4.0.0 | 6.9435E-05 | None | None | None | None | I | None | 6.67735E-05 | 1.66856E-04 | None | 0 | 0 | None | 1.56314E-05 | 1.64636E-04 | 7.80015E-05 | 0 | 4.80523E-05 |
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 | 0.9861 | likely_pathogenic | 0.9884 | pathogenic | -2.081 | Highly Destabilizing | 0.999 | D | 0.775 | deleterious | D | 0.63523419 | None | None | I |
| V/C | 0.9928 | likely_pathogenic | 0.9931 | pathogenic | -1.791 | Destabilizing | 1.0 | D | 0.86 | deleterious | None | None | None | None | I |
| V/D | 0.9993 | likely_pathogenic | 0.9996 | pathogenic | -3.118 | Highly Destabilizing | 1.0 | D | 0.829 | deleterious | D | 0.635839603 | None | None | I |
| V/E | 0.998 | likely_pathogenic | 0.9986 | pathogenic | -2.998 | Highly Destabilizing | 1.0 | D | 0.828 | deleterious | None | None | None | None | I |
| V/F | 0.9862 | likely_pathogenic | 0.989 | pathogenic | -1.261 | Destabilizing | 1.0 | D | 0.859 | deleterious | D | 0.63523419 | None | None | I |
| V/G | 0.9907 | likely_pathogenic | 0.9933 | pathogenic | -2.488 | Highly Destabilizing | 1.0 | D | 0.799 | deleterious | D | 0.635839603 | None | None | I |
| V/H | 0.9996 | likely_pathogenic | 0.9997 | pathogenic | -2.054 | Highly Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | I |
| V/I | 0.1564 | likely_benign | 0.1499 | benign | -0.974 | Destabilizing | 0.999 | D | 0.739 | prob.delet. | N | 0.510523713 | None | None | I |
| V/K | 0.9987 | likely_pathogenic | 0.999 | pathogenic | -1.736 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | I |
| V/L | 0.9548 | likely_pathogenic | 0.9547 | pathogenic | -0.974 | Destabilizing | 0.999 | D | 0.776 | deleterious | D | 0.595837638 | None | None | I |
| V/M | 0.9656 | likely_pathogenic | 0.9699 | pathogenic | -1.06 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | I |
| V/N | 0.9969 | likely_pathogenic | 0.9979 | pathogenic | -1.938 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | I |
| V/P | 0.9975 | likely_pathogenic | 0.998 | pathogenic | -1.317 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | I |
| V/Q | 0.9984 | likely_pathogenic | 0.9989 | pathogenic | -1.958 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | I |
| V/R | 0.9968 | likely_pathogenic | 0.9976 | pathogenic | -1.351 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | I |
| V/S | 0.9927 | likely_pathogenic | 0.9948 | pathogenic | -2.396 | Highly Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | I |
| V/T | 0.9748 | likely_pathogenic | 0.9795 | pathogenic | -2.17 | Highly Destabilizing | 0.999 | D | 0.823 | deleterious | None | None | None | None | I |
| V/W | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -1.698 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | I |
| V/Y | 0.9986 | likely_pathogenic | 0.9989 | pathogenic | -1.419 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | I |
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.