Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30724 | 92395;92396;92397 | chr2:178549456;178549455;178549454 | chr2:179414183;179414182;179414181 |
| N2AB | 29083 | 87472;87473;87474 | chr2:178549456;178549455;178549454 | chr2:179414183;179414182;179414181 |
| N2A | 28156 | 84691;84692;84693 | chr2:178549456;178549455;178549454 | chr2:179414183;179414182;179414181 |
| N2B | 21659 | 65200;65201;65202 | chr2:178549456;178549455;178549454 | chr2:179414183;179414182;179414181 |
| Novex-1 | 21784 | 65575;65576;65577 | chr2:178549456;178549455;178549454 | chr2:179414183;179414182;179414181 |
| Novex-2 | 21851 | 65776;65777;65778 | chr2:178549456;178549455;178549454 | chr2:179414183;179414182;179414181 |
| 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/D | None | None | 1.0 | N | 0.742 | 0.432 | 0.297031009988 | gnomAD-4.0.0 | 2.40064E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.625E-06 | 0 | 0 |
| G/R | rs370928582  |
-0.914 | 1.0 | N | 0.795 | 0.458 | None | gnomAD-2.1.1 | 1.82E-05 | None | None | None | None | N | None | 2.07348E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/R | rs370928582 |
-0.914 | 1.0 | N | 0.795 | 0.458 | None | gnomAD-3.1.2 | 1.18321E-04 | None | None | None | None | N | None | 4.34447E-04 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/R | rs370928582 |
-0.914 | 1.0 | N | 0.795 | 0.458 | None | gnomAD-4.0.0 | 1.55823E-05 | None | None | None | None | N | None | 3.08725E-04 | 0 | None | 0 | 0 | None | 0 | 0 | 1.70414E-06 | 0 | 0 |
| G/S | rs370928582 |
-1.16 | 1.0 | N | 0.669 | 0.374 | 0.234412748748 | gnomAD-2.1.1 | 4.1E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 9.07E-06 | 0 |
| G/S | rs370928582 |
-1.16 | 1.0 | N | 0.669 | 0.374 | 0.234412748748 | gnomAD-4.0.0 | 1.17059E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.53765E-05 | 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 | 0.1871 | likely_benign | 0.2106 | benign | -0.718 | Destabilizing | 1.0 | D | 0.617 | neutral | N | 0.467178502 | None | None | N |
| G/C | 0.3101 | likely_benign | 0.3403 | ambiguous | -1.054 | Destabilizing | 1.0 | D | 0.787 | deleterious | D | 0.52284762 | None | None | N |
| G/D | 0.3795 | ambiguous | 0.4381 | ambiguous | -1.222 | Destabilizing | 1.0 | D | 0.742 | deleterious | N | 0.521271178 | None | None | N |
| G/E | 0.3835 | ambiguous | 0.4403 | ambiguous | -1.229 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| G/F | 0.8004 | likely_pathogenic | 0.8499 | pathogenic | -0.95 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| G/H | 0.5936 | likely_pathogenic | 0.6465 | pathogenic | -1.443 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | N |
| G/I | 0.6102 | likely_pathogenic | 0.6798 | pathogenic | -0.175 | Destabilizing | 1.0 | D | 0.804 | deleterious | None | None | None | None | N |
| G/K | 0.5931 | likely_pathogenic | 0.6591 | pathogenic | -1.201 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| G/L | 0.5938 | likely_pathogenic | 0.6488 | pathogenic | -0.175 | Destabilizing | 1.0 | D | 0.816 | deleterious | None | None | None | None | N |
| G/M | 0.664 | likely_pathogenic | 0.7191 | pathogenic | -0.284 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| G/N | 0.4386 | ambiguous | 0.4942 | ambiguous | -1.002 | Destabilizing | 1.0 | D | 0.674 | neutral | None | None | None | None | N |
| G/P | 0.9712 | likely_pathogenic | 0.9789 | pathogenic | -0.313 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | N |
| G/Q | 0.4685 | ambiguous | 0.5198 | ambiguous | -1.102 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | N |
| G/R | 0.4592 | ambiguous | 0.5184 | ambiguous | -1.019 | Destabilizing | 1.0 | D | 0.795 | deleterious | N | 0.491065974 | None | None | N |
| G/S | 0.1249 | likely_benign | 0.1337 | benign | -1.315 | Destabilizing | 1.0 | D | 0.669 | neutral | N | 0.451851165 | None | None | N |
| G/T | 0.2651 | likely_benign | 0.2951 | benign | -1.227 | Destabilizing | 1.0 | D | 0.798 | deleterious | None | None | None | None | N |
| G/V | 0.44 | ambiguous | 0.4994 | ambiguous | -0.313 | Destabilizing | 1.0 | D | 0.823 | deleterious | N | 0.48925923 | None | None | N |
| G/W | 0.7367 | likely_pathogenic | 0.7892 | pathogenic | -1.393 | Destabilizing | 1.0 | D | 0.758 | deleterious | None | None | None | None | N |
| G/Y | 0.6664 | likely_pathogenic | 0.7315 | pathogenic | -0.917 | Destabilizing | 1.0 | D | 0.811 | 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.