Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17827 | 53704;53705;53706 | chr2:178607123;178607122;178607121 | chr2:179471850;179471849;179471848 |
| N2AB | 16186 | 48781;48782;48783 | chr2:178607123;178607122;178607121 | chr2:179471850;179471849;179471848 |
| N2A | 15259 | 46000;46001;46002 | chr2:178607123;178607122;178607121 | chr2:179471850;179471849;179471848 |
| N2B | 8762 | 26509;26510;26511 | chr2:178607123;178607122;178607121 | chr2:179471850;179471849;179471848 |
| Novex-1 | 8887 | 26884;26885;26886 | chr2:178607123;178607122;178607121 | chr2:179471850;179471849;179471848 |
| Novex-2 | 8954 | 27085;27086;27087 | chr2:178607123;178607122;178607121 | chr2:179471850;179471849;179471848 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/V | rs762423166  |
-1.739 | 0.962 | D | 0.829 | 0.543 | 0.818759044495 | gnomAD-2.1.1 | 4.84E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.93236E-04 | None | 0 | 0 | 0 |
| L/V | rs762423166 |
-1.739 | 0.962 | D | 0.829 | 0.543 | 0.818759044495 | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 8.28844E-04 | 0 |
| L/V | rs762423166 |
-1.739 | 0.962 | D | 0.829 | 0.543 | 0.818759044495 | gnomAD-4.0.0 | 5.38673E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 5.63698E-04 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/A | 0.9868 | likely_pathogenic | 0.9866 | pathogenic | -2.739 | Highly Destabilizing | 0.994 | D | 0.795 | deleterious | None | None | None | None | N |
| L/C | 0.9747 | likely_pathogenic | 0.9607 | pathogenic | -2.182 | Highly Destabilizing | 1.0 | D | 0.792 | deleterious | None | None | None | None | N |
| L/D | 0.9995 | likely_pathogenic | 0.9996 | pathogenic | -3.072 | Highly Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| L/E | 0.9977 | likely_pathogenic | 0.9981 | pathogenic | -2.863 | Highly Destabilizing | 1.0 | D | 0.848 | deleterious | None | None | None | None | N |
| L/F | 0.8734 | likely_pathogenic | 0.8994 | pathogenic | -1.779 | Destabilizing | 0.999 | D | 0.831 | deleterious | None | None | None | None | N |
| L/G | 0.9968 | likely_pathogenic | 0.9964 | pathogenic | -3.26 | Highly Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| L/H | 0.9955 | likely_pathogenic | 0.9962 | pathogenic | -2.654 | Highly Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| L/I | 0.3627 | ambiguous | 0.4333 | ambiguous | -1.234 | Destabilizing | 0.683 | D | 0.572 | neutral | None | None | None | None | N |
| L/K | 0.9951 | likely_pathogenic | 0.9958 | pathogenic | -2.077 | Highly Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| L/M | 0.5195 | ambiguous | 0.5697 | pathogenic | -1.256 | Destabilizing | 0.999 | D | 0.825 | deleterious | D | 0.575825015 | None | None | N |
| L/N | 0.995 | likely_pathogenic | 0.995 | pathogenic | -2.431 | Highly Destabilizing | 1.0 | D | 0.858 | deleterious | None | None | None | None | N |
| L/P | 0.9971 | likely_pathogenic | 0.9968 | pathogenic | -1.718 | Destabilizing | 1.0 | D | 0.863 | deleterious | D | 0.636066383 | None | None | N |
| L/Q | 0.9916 | likely_pathogenic | 0.9937 | pathogenic | -2.332 | Highly Destabilizing | 1.0 | D | 0.848 | deleterious | D | 0.636066383 | None | None | N |
| L/R | 0.9922 | likely_pathogenic | 0.9932 | pathogenic | -1.718 | Destabilizing | 1.0 | D | 0.841 | deleterious | D | 0.636066383 | None | None | N |
| L/S | 0.9979 | likely_pathogenic | 0.9978 | pathogenic | -3.131 | Highly Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| L/T | 0.9871 | likely_pathogenic | 0.9878 | pathogenic | -2.78 | Highly Destabilizing | 0.999 | D | 0.807 | deleterious | None | None | None | None | N |
| L/V | 0.5672 | likely_pathogenic | 0.5922 | pathogenic | -1.718 | Destabilizing | 0.962 | D | 0.829 | deleterious | D | 0.589747732 | None | None | N |
| L/W | 0.9908 | likely_pathogenic | 0.9923 | pathogenic | -2.131 | Highly Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | N |
| L/Y | 0.9892 | likely_pathogenic | 0.991 | pathogenic | -1.874 | Destabilizing | 1.0 | D | 0.801 | 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.