Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25919 | 77980;77981;77982 | chr2:178568377;178568376;178568375 | chr2:179433104;179433103;179433102 |
| N2AB | 24278 | 73057;73058;73059 | chr2:178568377;178568376;178568375 | chr2:179433104;179433103;179433102 |
| N2A | 23351 | 70276;70277;70278 | chr2:178568377;178568376;178568375 | chr2:179433104;179433103;179433102 |
| N2B | 16854 | 50785;50786;50787 | chr2:178568377;178568376;178568375 | chr2:179433104;179433103;179433102 |
| Novex-1 | 16979 | 51160;51161;51162 | chr2:178568377;178568376;178568375 | chr2:179433104;179433103;179433102 |
| Novex-2 | 17046 | 51361;51362;51363 | chr2:178568377;178568376;178568375 | chr2:179433104;179433103;179433102 |
| 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/A | rs1706772581  |
None | 1.0 | D | 0.727 | 0.55 | 0.37568098594 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07383E-04 | 0 |
| G/A | rs1706772581 |
None | 1.0 | D | 0.727 | 0.55 | 0.37568098594 | gnomAD-4.0.0 | 6.57817E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.07383E-04 | 0 |
| G/R | rs1243412494 |
-0.38 | 1.0 | N | 0.827 | 0.641 | 0.732132420435 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.9E-06 | 0 |
| G/R | rs1243412494 |
-0.38 | 1.0 | N | 0.827 | 0.641 | 0.732132420435 | gnomAD-4.0.0 | 6.84448E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99638E-07 | 0 | 0 |
| G/W | None | None | 1.0 | D | 0.805 | 0.608 | 0.746264508851 | gnomAD-4.0.0 | 3.42224E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.49819E-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 | 0.9395 | likely_pathogenic | 0.9489 | pathogenic | -0.422 | Destabilizing | 1.0 | D | 0.727 | prob.delet. | D | 0.531468448 | None | None | I |
| G/C | 0.9932 | likely_pathogenic | 0.9938 | pathogenic | -0.651 | Destabilizing | 1.0 | D | 0.786 | deleterious | None | None | None | None | I |
| G/D | 0.9974 | likely_pathogenic | 0.9978 | pathogenic | -0.411 | Destabilizing | 1.0 | D | 0.826 | deleterious | None | None | None | None | I |
| G/E | 0.9982 | likely_pathogenic | 0.9986 | pathogenic | -0.511 | Destabilizing | 1.0 | D | 0.845 | deleterious | D | 0.548812234 | None | None | I |
| G/F | 0.9992 | likely_pathogenic | 0.9992 | pathogenic | -0.864 | Destabilizing | 1.0 | D | 0.786 | deleterious | None | None | None | None | I |
| G/H | 0.9992 | likely_pathogenic | 0.9993 | pathogenic | -0.874 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | I |
| G/I | 0.9989 | likely_pathogenic | 0.999 | pathogenic | -0.236 | Destabilizing | 1.0 | D | 0.794 | deleterious | None | None | None | None | I |
| G/K | 0.9987 | likely_pathogenic | 0.9991 | pathogenic | -0.866 | Destabilizing | 1.0 | D | 0.846 | deleterious | None | None | None | None | I |
| G/L | 0.9986 | likely_pathogenic | 0.9986 | pathogenic | -0.236 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | I |
| G/M | 0.9993 | likely_pathogenic | 0.9993 | pathogenic | -0.257 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | I |
| G/N | 0.9981 | likely_pathogenic | 0.9982 | pathogenic | -0.462 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | I |
| G/P | 0.9991 | likely_pathogenic | 0.9992 | pathogenic | -0.258 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | I |
| G/Q | 0.9984 | likely_pathogenic | 0.9987 | pathogenic | -0.656 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | I |
| G/R | 0.9948 | likely_pathogenic | 0.9963 | pathogenic | -0.545 | Destabilizing | 1.0 | D | 0.827 | deleterious | N | 0.508337763 | None | None | I |
| G/S | 0.9519 | likely_pathogenic | 0.9598 | pathogenic | -0.72 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | I |
| G/T | 0.995 | likely_pathogenic | 0.9956 | pathogenic | -0.734 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | I |
| G/V | 0.9966 | likely_pathogenic | 0.9972 | pathogenic | -0.258 | Destabilizing | 1.0 | D | 0.807 | deleterious | D | 0.527455976 | None | None | I |
| G/W | 0.9978 | likely_pathogenic | 0.998 | pathogenic | -1.148 | Destabilizing | 1.0 | D | 0.805 | deleterious | D | 0.55084015 | None | None | I |
| G/Y | 0.9989 | likely_pathogenic | 0.999 | pathogenic | -0.742 | Destabilizing | 1.0 | D | 0.782 | 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.