Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 7476 | 22651;22652;22653 | chr2:178722361;178722360;178722359 | chr2:179587088;179587087;179587086 |
| N2AB | 7159 | 21700;21701;21702 | chr2:178722361;178722360;178722359 | chr2:179587088;179587087;179587086 |
| N2A | 6232 | 18919;18920;18921 | chr2:178722361;178722360;178722359 | chr2:179587088;179587087;179587086 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/F | rs1196470508  |
-1.581 | 1.0 | D | 0.821 | 0.65 | 0.770564647879 | gnomAD-2.1.1 | 7.18E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.57E-05 | 0 |
| L/F | rs1196470508 |
-1.581 | 1.0 | D | 0.821 | 0.65 | 0.770564647879 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| L/F | rs1196470508 |
-1.581 | 1.0 | D | 0.821 | 0.65 | 0.770564647879 | gnomAD-4.0.0 | 7.6915E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.43671E-05 | 0 | 0 |
| L/S | rs1330405287 |
None | 1.0 | D | 0.878 | 0.872 | 0.917983046632 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 6.56E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| L/S | rs1330405287 |
None | 1.0 | D | 0.878 | 0.872 | 0.917983046632 | gnomAD-4.0.0 | 2.03002E-06 | None | None | None | None | N | None | 0 | 6.16295E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 4.69704E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/A | 0.9219 | likely_pathogenic | 0.9134 | pathogenic | -2.17 | Highly Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | N |
| L/C | 0.9231 | likely_pathogenic | 0.9127 | pathogenic | -1.467 | Destabilizing | 1.0 | D | 0.856 | deleterious | None | None | None | None | N |
| L/D | 0.9996 | likely_pathogenic | 0.9996 | pathogenic | -2.934 | Highly Destabilizing | 1.0 | D | 0.915 | deleterious | None | None | None | None | N |
| L/E | 0.996 | likely_pathogenic | 0.9961 | pathogenic | -2.616 | Highly Destabilizing | 1.0 | D | 0.886 | deleterious | None | None | None | None | N |
| L/F | 0.514 | ambiguous | 0.5789 | pathogenic | -1.35 | Destabilizing | 1.0 | D | 0.821 | deleterious | D | 0.626886931 | None | None | N |
| L/G | 0.986 | likely_pathogenic | 0.9853 | pathogenic | -2.78 | Highly Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | N |
| L/H | 0.9876 | likely_pathogenic | 0.9889 | pathogenic | -2.67 | Highly Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | None | None | N |
| L/I | 0.2831 | likely_benign | 0.2688 | benign | -0.355 | Destabilizing | 0.999 | D | 0.696 | prob.neutral | D | 0.608001231 | None | None | N |
| L/K | 0.9932 | likely_pathogenic | 0.9939 | pathogenic | -1.577 | Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | N |
| L/M | 0.2918 | likely_benign | 0.2907 | benign | -0.506 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| L/N | 0.9966 | likely_pathogenic | 0.997 | pathogenic | -2.286 | Highly Destabilizing | 1.0 | D | 0.915 | deleterious | None | None | None | None | N |
| L/P | 0.998 | likely_pathogenic | 0.9981 | pathogenic | -0.948 | Destabilizing | 1.0 | D | 0.912 | deleterious | None | None | None | None | N |
| L/Q | 0.9748 | likely_pathogenic | 0.9768 | pathogenic | -1.915 | Destabilizing | 1.0 | D | 0.91 | deleterious | None | None | None | None | N |
| L/R | 0.9817 | likely_pathogenic | 0.9828 | pathogenic | -1.785 | Destabilizing | 1.0 | D | 0.895 | deleterious | None | None | None | None | N |
| L/S | 0.9902 | likely_pathogenic | 0.9903 | pathogenic | -2.843 | Highly Destabilizing | 1.0 | D | 0.878 | deleterious | D | 0.669655229 | None | None | N |
| L/T | 0.9734 | likely_pathogenic | 0.9715 | pathogenic | -2.349 | Highly Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| L/V | 0.2954 | likely_benign | 0.268 | benign | -0.948 | Destabilizing | 0.999 | D | 0.695 | prob.neutral | D | 0.621779308 | None | None | N |
| L/W | 0.938 | likely_pathogenic | 0.9502 | pathogenic | -1.809 | Destabilizing | 1.0 | D | 0.87 | deleterious | None | None | None | None | N |
| L/Y | 0.9536 | likely_pathogenic | 0.963 | pathogenic | -1.47 | Destabilizing | 1.0 | D | 0.865 | 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.