Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31473 | 94642;94643;94644 | chr2:178547108;178547107;178547106 | chr2:179411835;179411834;179411833 |
| N2AB | 29832 | 89719;89720;89721 | chr2:178547108;178547107;178547106 | chr2:179411835;179411834;179411833 |
| N2A | 28905 | 86938;86939;86940 | chr2:178547108;178547107;178547106 | chr2:179411835;179411834;179411833 |
| N2B | 22408 | 67447;67448;67449 | chr2:178547108;178547107;178547106 | chr2:179411835;179411834;179411833 |
| Novex-1 | 22533 | 67822;67823;67824 | chr2:178547108;178547107;178547106 | chr2:179411835;179411834;179411833 |
| Novex-2 | 22600 | 68023;68024;68025 | chr2:178547108;178547107;178547106 | chr2:179411835;179411834;179411833 |
| 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/S | None | None | 1.0 | D | 0.855 | 0.867 | 0.910148523263 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/A | 0.9689 | likely_pathogenic | 0.9674 | pathogenic | -2.691 | Highly Destabilizing | 0.999 | D | 0.832 | deleterious | None | None | None | None | N |
| L/C | 0.9442 | likely_pathogenic | 0.9457 | pathogenic | -2.223 | Highly Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| L/D | 0.9996 | likely_pathogenic | 0.9996 | pathogenic | -3.345 | Highly Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| L/E | 0.9978 | likely_pathogenic | 0.9979 | pathogenic | -3.148 | Highly Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| L/F | 0.8935 | likely_pathogenic | 0.8983 | pathogenic | -1.732 | Destabilizing | 1.0 | D | 0.871 | deleterious | D | 0.641063282 | None | None | N |
| L/G | 0.9949 | likely_pathogenic | 0.9946 | pathogenic | -3.216 | Highly Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| L/H | 0.9952 | likely_pathogenic | 0.9953 | pathogenic | -2.667 | Highly Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| L/I | 0.4127 | ambiguous | 0.4464 | ambiguous | -1.177 | Destabilizing | 0.999 | D | 0.823 | deleterious | D | 0.618927278 | None | None | N |
| L/K | 0.9962 | likely_pathogenic | 0.9962 | pathogenic | -2.12 | Highly Destabilizing | 1.0 | D | 0.852 | deleterious | None | None | None | None | N |
| L/M | 0.5041 | ambiguous | 0.4983 | ambiguous | -1.185 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| L/N | 0.9953 | likely_pathogenic | 0.9955 | pathogenic | -2.481 | Highly Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| L/P | 0.9965 | likely_pathogenic | 0.9967 | pathogenic | -1.663 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| L/Q | 0.9919 | likely_pathogenic | 0.9907 | pathogenic | -2.403 | Highly Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| L/R | 0.9917 | likely_pathogenic | 0.9916 | pathogenic | -1.723 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| L/S | 0.9964 | likely_pathogenic | 0.9961 | pathogenic | -3.132 | Highly Destabilizing | 1.0 | D | 0.855 | deleterious | D | 0.658122025 | None | None | N |
| L/T | 0.9735 | likely_pathogenic | 0.971 | pathogenic | -2.793 | Highly Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| L/V | 0.533 | ambiguous | 0.5225 | ambiguous | -1.663 | Destabilizing | 0.999 | D | 0.83 | deleterious | D | 0.586302785 | None | None | N |
| L/W | 0.9919 | likely_pathogenic | 0.9922 | pathogenic | -2.151 | Highly Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | N |
| L/Y | 0.992 | likely_pathogenic | 0.9929 | pathogenic | -1.884 | Destabilizing | 1.0 | D | 0.832 | 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.