Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18404 | 55435;55436;55437 | chr2:178602061;178602060;178602059 | chr2:179466788;179466787;179466786 |
| N2AB | 16763 | 50512;50513;50514 | chr2:178602061;178602060;178602059 | chr2:179466788;179466787;179466786 |
| N2A | 15836 | 47731;47732;47733 | chr2:178602061;178602060;178602059 | chr2:179466788;179466787;179466786 |
| N2B | 9339 | 28240;28241;28242 | chr2:178602061;178602060;178602059 | chr2:179466788;179466787;179466786 |
| Novex-1 | 9464 | 28615;28616;28617 | chr2:178602061;178602060;178602059 | chr2:179466788;179466787;179466786 |
| Novex-2 | 9531 | 28816;28817;28818 | chr2:178602061;178602060;178602059 | chr2:179466788;179466787;179466786 |
| 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/V | rs746548796  |
-0.573 | 1.0 | D | 0.784 | 0.696 | 0.793340593918 | gnomAD-2.1.1 | 7.16E-06 | None | None | None | None | I | None | 4.14E-05 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| G/V | rs746548796 |
-0.573 | 1.0 | D | 0.784 | 0.696 | 0.793340593918 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 2.42E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/V | rs746548796 |
-0.573 | 1.0 | D | 0.784 | 0.696 | 0.793340593918 | gnomAD-4.0.0 | 2.56567E-06 | None | None | None | None | I | None | 1.69382E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.34102E-05 | 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 | 0.7142 | likely_pathogenic | 0.7785 | pathogenic | -0.364 | Destabilizing | 1.0 | D | 0.747 | deleterious | D | 0.573277751 | None | None | I |
| G/C | 0.9638 | likely_pathogenic | 0.9765 | pathogenic | -0.822 | Destabilizing | 1.0 | D | 0.689 | prob.neutral | None | None | None | None | I |
| G/D | 0.9933 | likely_pathogenic | 0.9952 | pathogenic | -0.88 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | I |
| G/E | 0.9955 | likely_pathogenic | 0.9968 | pathogenic | -1.038 | Destabilizing | 1.0 | D | 0.803 | deleterious | D | 0.598128925 | None | None | I |
| G/F | 0.997 | likely_pathogenic | 0.9981 | pathogenic | -1.052 | Destabilizing | 1.0 | D | 0.749 | deleterious | None | None | None | None | I |
| G/H | 0.9987 | likely_pathogenic | 0.9991 | pathogenic | -0.694 | Destabilizing | 1.0 | D | 0.671 | neutral | None | None | None | None | I |
| G/I | 0.996 | likely_pathogenic | 0.9975 | pathogenic | -0.463 | Destabilizing | 1.0 | D | 0.759 | deleterious | None | None | None | None | I |
| G/K | 0.9985 | likely_pathogenic | 0.9989 | pathogenic | -1.048 | Destabilizing | 1.0 | D | 0.804 | deleterious | None | None | None | None | I |
| G/L | 0.996 | likely_pathogenic | 0.9972 | pathogenic | -0.463 | Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | I |
| G/M | 0.9978 | likely_pathogenic | 0.9985 | pathogenic | -0.508 | Destabilizing | 1.0 | D | 0.684 | prob.neutral | None | None | None | None | I |
| G/N | 0.9961 | likely_pathogenic | 0.9973 | pathogenic | -0.598 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | I |
| G/P | 0.9993 | likely_pathogenic | 0.9996 | pathogenic | -0.396 | Destabilizing | 1.0 | D | 0.79 | deleterious | None | None | None | None | I |
| G/Q | 0.9976 | likely_pathogenic | 0.9983 | pathogenic | -0.9 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | I |
| G/R | 0.9951 | likely_pathogenic | 0.9966 | pathogenic | -0.56 | Destabilizing | 1.0 | D | 0.795 | deleterious | D | 0.601761402 | None | None | I |
| G/S | 0.8842 | likely_pathogenic | 0.9184 | pathogenic | -0.689 | Destabilizing | 1.0 | D | 0.818 | deleterious | None | None | None | None | I |
| G/T | 0.9869 | likely_pathogenic | 0.9923 | pathogenic | -0.789 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | I |
| G/V | 0.9866 | likely_pathogenic | 0.992 | pathogenic | -0.396 | Destabilizing | 1.0 | D | 0.784 | deleterious | D | 0.601761402 | None | None | I |
| G/W | 0.995 | likely_pathogenic | 0.9965 | pathogenic | -1.231 | Destabilizing | 1.0 | D | 0.673 | neutral | None | None | None | None | I |
| G/Y | 0.9951 | likely_pathogenic | 0.9969 | pathogenic | -0.893 | Destabilizing | 1.0 | D | 0.737 | prob.delet. | 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.