Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25399 | 76420;76421;76422 | chr2:178569937;178569936;178569935 | chr2:179434664;179434663;179434662 |
| N2AB | 23758 | 71497;71498;71499 | chr2:178569937;178569936;178569935 | chr2:179434664;179434663;179434662 |
| N2A | 22831 | 68716;68717;68718 | chr2:178569937;178569936;178569935 | chr2:179434664;179434663;179434662 |
| N2B | 16334 | 49225;49226;49227 | chr2:178569937;178569936;178569935 | chr2:179434664;179434663;179434662 |
| Novex-1 | 16459 | 49600;49601;49602 | chr2:178569937;178569936;178569935 | chr2:179434664;179434663;179434662 |
| Novex-2 | 16526 | 49801;49802;49803 | chr2:178569937;178569936;178569935 | chr2:179434664;179434663;179434662 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/P | rs1179236670  |
-1.007 | 1.0 | N | 0.826 | 0.362 | 0.57786441613 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 1.14837E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| A/P | rs1179236670 |
-1.007 | 1.0 | N | 0.826 | 0.362 | 0.57786441613 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/P | rs1179236670 |
-1.007 | 1.0 | N | 0.826 | 0.362 | 0.57786441613 | gnomAD-4.0.0 | 6.57947E-06 | None | None | None | None | N | None | 2.41453E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/T | None | None | 1.0 | N | 0.766 | 0.28 | 0.500805711387 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 6.07533E-05 | 0 |
| A/V | rs1418217582 |
-0.385 | 0.999 | N | 0.677 | 0.327 | 0.566810639971 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.49E-05 | 0 |
| A/V | rs1418217582 |
-0.385 | 0.999 | N | 0.677 | 0.327 | 0.566810639971 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| A/V | rs1418217582 |
-0.385 | 0.999 | N | 0.677 | 0.327 | 0.566810639971 | gnomAD-4.0.0 | 6.57652E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47124E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.802 | likely_pathogenic | 0.8191 | pathogenic | -1.878 | Destabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | N |
| A/D | 0.9962 | likely_pathogenic | 0.9961 | pathogenic | -2.972 | Highly Destabilizing | 1.0 | D | 0.853 | deleterious | N | 0.503485463 | None | None | N |
| A/E | 0.9929 | likely_pathogenic | 0.9931 | pathogenic | -2.775 | Highly Destabilizing | 1.0 | D | 0.814 | deleterious | None | None | None | None | N |
| A/F | 0.9673 | likely_pathogenic | 0.9715 | pathogenic | -0.629 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| A/G | 0.5751 | likely_pathogenic | 0.5673 | pathogenic | -1.933 | Destabilizing | 0.999 | D | 0.591 | neutral | N | 0.485381208 | None | None | N |
| A/H | 0.9954 | likely_pathogenic | 0.9947 | pathogenic | -1.821 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| A/I | 0.7967 | likely_pathogenic | 0.8312 | pathogenic | -0.541 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| A/K | 0.9978 | likely_pathogenic | 0.9977 | pathogenic | -1.387 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| A/L | 0.7738 | likely_pathogenic | 0.8024 | pathogenic | -0.541 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| A/M | 0.8585 | likely_pathogenic | 0.8927 | pathogenic | -1.111 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| A/N | 0.9816 | likely_pathogenic | 0.9812 | pathogenic | -1.882 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| A/P | 0.786 | likely_pathogenic | 0.8109 | pathogenic | -0.851 | Destabilizing | 1.0 | D | 0.826 | deleterious | N | 0.466717068 | None | None | N |
| A/Q | 0.9857 | likely_pathogenic | 0.9862 | pathogenic | -1.652 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| A/R | 0.9906 | likely_pathogenic | 0.9891 | pathogenic | -1.444 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| A/S | 0.4432 | ambiguous | 0.4554 | ambiguous | -2.146 | Highly Destabilizing | 0.999 | D | 0.623 | neutral | N | 0.470631088 | None | None | N |
| A/T | 0.7467 | likely_pathogenic | 0.7453 | pathogenic | -1.854 | Destabilizing | 1.0 | D | 0.766 | deleterious | N | 0.491118842 | None | None | N |
| A/V | 0.5814 | likely_pathogenic | 0.6068 | pathogenic | -0.851 | Destabilizing | 0.999 | D | 0.677 | prob.neutral | N | 0.504586785 | None | None | N |
| A/W | 0.9981 | likely_pathogenic | 0.9981 | pathogenic | -1.241 | Destabilizing | 1.0 | D | 0.774 | deleterious | None | None | None | None | N |
| A/Y | 0.9888 | likely_pathogenic | 0.9886 | pathogenic | -0.95 | Destabilizing | 1.0 | D | 0.87 | 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.