Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22193 | 66802;66803;66804 | chr2:178581691;178581690;178581689 | chr2:179446418;179446417;179446416 |
| N2AB | 20552 | 61879;61880;61881 | chr2:178581691;178581690;178581689 | chr2:179446418;179446417;179446416 |
| N2A | 19625 | 59098;59099;59100 | chr2:178581691;178581690;178581689 | chr2:179446418;179446417;179446416 |
| N2B | 13128 | 39607;39608;39609 | chr2:178581691;178581690;178581689 | chr2:179446418;179446417;179446416 |
| Novex-1 | 13253 | 39982;39983;39984 | chr2:178581691;178581690;178581689 | chr2:179446418;179446417;179446416 |
| Novex-2 | 13320 | 40183;40184;40185 | chr2:178581691;178581690;178581689 | chr2:179446418;179446417;179446416 |
| 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/A | rs775454536  |
-2.709 | 0.999 | D | 0.593 | 0.629 | 0.735643650146 | gnomAD-2.1.1 | 4.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.94E-06 | 0 |
| V/A | rs775454536 |
-2.709 | 0.999 | D | 0.593 | 0.629 | 0.735643650146 | gnomAD-4.0.0 | 4.78373E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.7933E-05 | None | 0 | 0 | 5.72629E-06 | 0 | 0 |
| V/I | rs760767895 |
-0.406 | 0.999 | N | 0.585 | 0.261 | 0.623733534801 | gnomAD-2.1.1 | 8.1E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 6.57E-05 | None | 0 | 0 | 0 |
| V/I | rs760767895 |
-0.406 | 0.999 | N | 0.585 | 0.261 | 0.623733534801 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 0 | 6.56E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07383E-04 | 4.78469E-04 |
| V/I | rs760767895 |
-0.406 | 0.999 | N | 0.585 | 0.261 | 0.623733534801 | gnomAD-4.0.0 | 2.10898E-05 | None | None | None | None | N | None | 0 | 1.67084E-05 | None | 0 | 0 | None | 0 | 0 | 1.61139E-05 | 1.09948E-04 | 6.4119E-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 | 0.8582 | likely_pathogenic | 0.8838 | pathogenic | -2.288 | Highly Destabilizing | 0.999 | D | 0.593 | neutral | D | 0.548718962 | None | None | N |
| V/C | 0.9729 | likely_pathogenic | 0.9787 | pathogenic | -1.627 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| V/D | 0.9988 | likely_pathogenic | 0.9992 | pathogenic | -3.314 | Highly Destabilizing | 1.0 | D | 0.883 | deleterious | D | 0.560835736 | None | None | N |
| V/E | 0.9963 | likely_pathogenic | 0.9969 | pathogenic | -2.98 | Highly Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | N |
| V/F | 0.9453 | likely_pathogenic | 0.9542 | pathogenic | -1.321 | Destabilizing | 1.0 | D | 0.825 | deleterious | D | 0.560582246 | None | None | N |
| V/G | 0.9681 | likely_pathogenic | 0.9736 | pathogenic | -2.911 | Highly Destabilizing | 1.0 | D | 0.879 | deleterious | D | 0.560835736 | None | None | N |
| V/H | 0.999 | likely_pathogenic | 0.9992 | pathogenic | -2.846 | Highly Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | N |
| V/I | 0.1223 | likely_benign | 0.1216 | benign | -0.47 | Destabilizing | 0.999 | D | 0.585 | neutral | N | 0.484430517 | None | None | N |
| V/K | 0.9969 | likely_pathogenic | 0.9974 | pathogenic | -1.958 | Destabilizing | 1.0 | D | 0.878 | deleterious | None | None | None | None | N |
| V/L | 0.5873 | likely_pathogenic | 0.599 | pathogenic | -0.47 | Destabilizing | 0.999 | D | 0.615 | neutral | D | 0.531149816 | None | None | N |
| V/M | 0.8206 | likely_pathogenic | 0.8335 | pathogenic | -0.642 | Destabilizing | 1.0 | D | 0.757 | deleterious | None | None | None | None | N |
| V/N | 0.9971 | likely_pathogenic | 0.9977 | pathogenic | -2.69 | Highly Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | N |
| V/P | 0.9936 | likely_pathogenic | 0.9949 | pathogenic | -1.058 | Destabilizing | 1.0 | D | 0.878 | deleterious | None | None | None | None | N |
| V/Q | 0.9954 | likely_pathogenic | 0.9963 | pathogenic | -2.299 | Highly Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | N |
| V/R | 0.9931 | likely_pathogenic | 0.9942 | pathogenic | -2.122 | Highly Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | None | None | N |
| V/S | 0.9826 | likely_pathogenic | 0.9871 | pathogenic | -3.185 | Highly Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| V/T | 0.8794 | likely_pathogenic | 0.9087 | pathogenic | -2.684 | Highly Destabilizing | 0.999 | D | 0.629 | neutral | None | None | None | None | N |
| V/W | 0.999 | likely_pathogenic | 0.9993 | pathogenic | -1.893 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| V/Y | 0.9964 | likely_pathogenic | 0.9972 | pathogenic | -1.542 | Destabilizing | 1.0 | D | 0.823 | 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.