Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 4878 | 14857;14858;14859 | chr2:178735814;178735813;178735812 | chr2:179600541;179600540;179600539 |
| N2AB | 4561 | 13906;13907;13908 | chr2:178735814;178735813;178735812 | chr2:179600541;179600540;179600539 |
| N2A | 3634 | 11125;11126;11127 | chr2:178735814;178735813;178735812 | chr2:179600541;179600540;179600539 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/R | rs1420951928  |
-1.322 | 0.994 | N | 0.8 | 0.574 | 0.831880704496 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| C/R | rs1420951928 |
-1.322 | 0.994 | N | 0.8 | 0.574 | 0.831880704496 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| C/R | rs1420951928 |
-1.322 | 0.994 | N | 0.8 | 0.574 | 0.831880704496 | gnomAD-4.0.0 | 2.56232E-06 | None | None | None | None | N | None | 0 | 3.3896E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| C/Y | rs546830236 |
-1.487 | 0.976 | D | 0.777 | 0.472 | 0.818028209021 | gnomAD-2.1.1 | 2.82E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 2.28803E-04 | None | 0 | 0 | 0 |
| C/Y | rs546830236 |
-1.487 | 0.976 | D | 0.777 | 0.472 | 0.818028209021 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07297E-04 | 0 |
| C/Y | rs546830236 |
-1.487 | 0.976 | D | 0.777 | 0.472 | 0.818028209021 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 0 | 0 | None | None | None | 1E-03 | None |
| C/Y | rs546830236 |
-1.487 | 0.976 | D | 0.777 | 0.472 | 0.818028209021 | gnomAD-4.0.0 | 8.05603E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.20784E-04 | 3.20205E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/A | 0.6238 | likely_pathogenic | 0.5635 | ambiguous | -1.994 | Destabilizing | 0.864 | D | 0.628 | neutral | None | None | None | None | N |
| C/D | 0.9671 | likely_pathogenic | 0.9456 | pathogenic | -1.09 | Destabilizing | 0.991 | D | 0.805 | deleterious | None | None | None | None | N |
| C/E | 0.9859 | likely_pathogenic | 0.9803 | pathogenic | -0.942 | Destabilizing | 0.991 | D | 0.804 | deleterious | None | None | None | None | N |
| C/F | 0.6932 | likely_pathogenic | 0.6671 | pathogenic | -1.203 | Destabilizing | 0.068 | N | 0.489 | neutral | D | 0.63847793 | None | None | N |
| C/G | 0.4128 | ambiguous | 0.3869 | ambiguous | -2.332 | Highly Destabilizing | 0.959 | D | 0.759 | deleterious | N | 0.50917363 | None | None | N |
| C/H | 0.936 | likely_pathogenic | 0.9081 | pathogenic | -2.356 | Highly Destabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | N |
| C/I | 0.8651 | likely_pathogenic | 0.838 | pathogenic | -1.097 | Destabilizing | 0.969 | D | 0.748 | deleterious | None | None | None | None | N |
| C/K | 0.9917 | likely_pathogenic | 0.99 | pathogenic | -1.509 | Destabilizing | 0.991 | D | 0.805 | deleterious | None | None | None | None | N |
| C/L | 0.8198 | likely_pathogenic | 0.8043 | pathogenic | -1.097 | Destabilizing | 0.864 | D | 0.666 | neutral | None | None | None | None | N |
| C/M | 0.9244 | likely_pathogenic | 0.9116 | pathogenic | 0.082 | Stabilizing | 0.999 | D | 0.724 | prob.delet. | None | None | None | None | N |
| C/N | 0.9203 | likely_pathogenic | 0.8946 | pathogenic | -1.633 | Destabilizing | 0.991 | D | 0.799 | deleterious | None | None | None | None | N |
| C/P | 0.9957 | likely_pathogenic | 0.9951 | pathogenic | -1.372 | Destabilizing | 0.995 | D | 0.803 | deleterious | None | None | None | None | N |
| C/Q | 0.9556 | likely_pathogenic | 0.9451 | pathogenic | -1.436 | Destabilizing | 0.995 | D | 0.781 | deleterious | None | None | None | None | N |
| C/R | 0.9259 | likely_pathogenic | 0.914 | pathogenic | -1.443 | Destabilizing | 0.994 | D | 0.8 | deleterious | N | 0.507473517 | None | None | N |
| C/S | 0.4401 | ambiguous | 0.388 | ambiguous | -2.127 | Highly Destabilizing | 0.476 | N | 0.532 | neutral | N | 0.475347172 | None | None | N |
| C/T | 0.7017 | likely_pathogenic | 0.6652 | pathogenic | -1.801 | Destabilizing | 0.939 | D | 0.696 | prob.neutral | None | None | None | None | N |
| C/V | 0.7804 | likely_pathogenic | 0.743 | pathogenic | -1.372 | Destabilizing | 0.969 | D | 0.696 | prob.neutral | None | None | None | None | N |
| C/W | 0.9302 | likely_pathogenic | 0.9151 | pathogenic | -1.318 | Destabilizing | 0.999 | D | 0.699 | prob.neutral | N | 0.507875839 | None | None | N |
| C/Y | 0.8555 | likely_pathogenic | 0.8238 | pathogenic | -1.3 | Destabilizing | 0.976 | D | 0.777 | deleterious | D | 0.615647741 | 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.