Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16284 | 49075;49076;49077 | chr2:178614664;178614663;178614662 | chr2:179479391;179479390;179479389 |
| N2AB | 14643 | 44152;44153;44154 | chr2:178614664;178614663;178614662 | chr2:179479391;179479390;179479389 |
| N2A | 13716 | 41371;41372;41373 | chr2:178614664;178614663;178614662 | chr2:179479391;179479390;179479389 |
| N2B | 7219 | 21880;21881;21882 | chr2:178614664;178614663;178614662 | chr2:179479391;179479390;179479389 |
| Novex-1 | 7344 | 22255;22256;22257 | chr2:178614664;178614663;178614662 | chr2:179479391;179479390;179479389 |
| Novex-2 | 7411 | 22456;22457;22458 | chr2:178614664;178614663;178614662 | chr2:179479391;179479390;179479389 |
| 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/R | rs368527534  |
-0.338 | 1.0 | D | 0.825 | 0.817 | 0.88659098148 | gnomAD-2.1.1 | 3.23E-05 | None | None | None | None | I | None | 0 | 2.91E-05 | None | 0 | 0 | None | 9.81E-05 | None | 0 | 3.58E-05 | 0 |
| G/R | rs368527534 |
-0.338 | 1.0 | D | 0.825 | 0.817 | 0.88659098148 | gnomAD-3.1.2 | 1.98E-05 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 4.1425E-04 | 4.79846E-04 |
| G/R | rs368527534 |
-0.338 | 1.0 | D | 0.825 | 0.817 | 0.88659098148 | gnomAD-4.0.0 | 4.03166E-05 | None | None | None | None | I | None | 0 | 5.01102E-05 | None | 3.38318E-05 | 0 | None | 1.56397E-05 | 0 | 3.73181E-05 | 1.20839E-04 | 8.01513E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.93 | likely_pathogenic | 0.9429 | pathogenic | -0.329 | Destabilizing | 1.0 | D | 0.777 | deleterious | D | 0.637201993 | None | None | I |
| G/C | 0.9925 | likely_pathogenic | 0.9932 | pathogenic | -0.71 | Destabilizing | 1.0 | D | 0.735 | prob.delet. | None | None | None | None | I |
| G/D | 0.9985 | likely_pathogenic | 0.9984 | pathogenic | -1.017 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | I |
| G/E | 0.9991 | likely_pathogenic | 0.9989 | pathogenic | -1.18 | Destabilizing | 1.0 | D | 0.824 | deleterious | D | 0.831618577 | None | None | I |
| G/F | 0.9993 | likely_pathogenic | 0.9993 | pathogenic | -1.061 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | I |
| G/H | 0.9997 | likely_pathogenic | 0.9997 | pathogenic | -0.774 | Destabilizing | 1.0 | D | 0.729 | prob.delet. | None | None | None | None | I |
| G/I | 0.9992 | likely_pathogenic | 0.999 | pathogenic | -0.431 | Destabilizing | 1.0 | D | 0.796 | deleterious | None | None | None | None | I |
| G/K | 0.9995 | likely_pathogenic | 0.9994 | pathogenic | -1.094 | Destabilizing | 1.0 | D | 0.824 | deleterious | None | None | None | None | I |
| G/L | 0.9989 | likely_pathogenic | 0.9988 | pathogenic | -0.431 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | I |
| G/M | 0.9995 | likely_pathogenic | 0.9995 | pathogenic | -0.422 | Destabilizing | 1.0 | D | 0.729 | prob.delet. | None | None | None | None | I |
| G/N | 0.9993 | likely_pathogenic | 0.9994 | pathogenic | -0.567 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | I |
| G/P | 0.9996 | likely_pathogenic | 0.9995 | pathogenic | -0.364 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | I |
| G/Q | 0.9992 | likely_pathogenic | 0.9991 | pathogenic | -0.884 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | I |
| G/R | 0.9979 | likely_pathogenic | 0.9975 | pathogenic | -0.61 | Destabilizing | 1.0 | D | 0.825 | deleterious | D | 0.826314257 | None | None | I |
| G/S | 0.968 | likely_pathogenic | 0.9725 | pathogenic | -0.615 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | I |
| G/T | 0.9966 | likely_pathogenic | 0.997 | pathogenic | -0.729 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | I |
| G/V | 0.9973 | likely_pathogenic | 0.997 | pathogenic | -0.364 | Destabilizing | 1.0 | D | 0.803 | deleterious | D | 0.792878868 | None | None | I |
| G/W | 0.9983 | likely_pathogenic | 0.998 | pathogenic | -1.26 | Destabilizing | 1.0 | D | 0.734 | prob.delet. | None | None | None | None | I |
| G/Y | 0.9994 | likely_pathogenic | 0.9993 | pathogenic | -0.923 | Destabilizing | 1.0 | D | 0.777 | 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.