Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18953 | 57082;57083;57084 | chr2:178598853;178598852;178598851 | chr2:179463580;179463579;179463578 |
| N2AB | 17312 | 52159;52160;52161 | chr2:178598853;178598852;178598851 | chr2:179463580;179463579;179463578 |
| N2A | 16385 | 49378;49379;49380 | chr2:178598853;178598852;178598851 | chr2:179463580;179463579;179463578 |
| N2B | 9888 | 29887;29888;29889 | chr2:178598853;178598852;178598851 | chr2:179463580;179463579;179463578 |
| Novex-1 | 10013 | 30262;30263;30264 | chr2:178598853;178598852;178598851 | chr2:179463580;179463579;179463578 |
| Novex-2 | 10080 | 30463;30464;30465 | chr2:178598853;178598852;178598851 | chr2:179463580;179463579;179463578 |
| 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/I | rs879079168  |
None | 0.989 | D | 0.824 | 0.641 | None | 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 |
| L/I | rs879079168 |
None | 0.989 | D | 0.824 | 0.641 | None | gnomAD-4.0.0 | 6.57999E-06 | None | None | None | None | N | None | 2.41464E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| L/P | rs749931527 |
-1.618 | 0.235 | D | 0.74 | 0.851 | 0.81554001249 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.91E-06 | 0 |
| L/P | rs749931527 |
-1.618 | 0.235 | D | 0.74 | 0.851 | 0.81554001249 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.9425E-04 | None | 0 | 0 | 0 | 0 | 0 |
| L/P | rs749931527 |
-1.618 | 0.235 | D | 0.74 | 0.851 | 0.81554001249 | gnomAD-4.0.0 | 2.56329E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.4312E-05 | None | 0 | 0 | 2.39451E-06 | 0 | 0 |
| L/V | None | None | 0.989 | D | 0.836 | 0.642 | 0.864834656502 | gnomAD-4.0.0 | 1.5922E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86004E-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 | 0.9849 | likely_pathogenic | 0.9814 | pathogenic | -2.586 | Highly Destabilizing | 0.983 | D | 0.811 | deleterious | None | None | None | None | N |
| L/C | 0.9536 | likely_pathogenic | 0.9677 | pathogenic | -2.144 | Highly Destabilizing | 1.0 | D | 0.818 | deleterious | None | None | None | None | N |
| L/D | 0.9997 | likely_pathogenic | 0.9995 | pathogenic | -2.641 | Highly Destabilizing | 0.998 | D | 0.877 | deleterious | None | None | None | None | N |
| L/E | 0.9986 | likely_pathogenic | 0.9977 | pathogenic | -2.531 | Highly Destabilizing | 0.995 | D | 0.875 | deleterious | None | None | None | None | N |
| L/F | 0.9346 | likely_pathogenic | 0.9222 | pathogenic | -1.907 | Destabilizing | 0.999 | D | 0.865 | deleterious | D | 0.66288676 | None | None | N |
| L/G | 0.9963 | likely_pathogenic | 0.9946 | pathogenic | -3.036 | Highly Destabilizing | 0.995 | D | 0.868 | deleterious | None | None | None | None | N |
| L/H | 0.9966 | likely_pathogenic | 0.9953 | pathogenic | -2.255 | Highly Destabilizing | 1.0 | D | 0.867 | deleterious | D | 0.663693977 | None | None | N |
| L/I | 0.5771 | likely_pathogenic | 0.5219 | ambiguous | -1.335 | Destabilizing | 0.989 | D | 0.824 | deleterious | D | 0.624499229 | None | None | N |
| L/K | 0.9953 | likely_pathogenic | 0.9928 | pathogenic | -1.934 | Destabilizing | 0.995 | D | 0.859 | deleterious | None | None | None | None | N |
| L/M | 0.6424 | likely_pathogenic | 0.6528 | pathogenic | -1.182 | Destabilizing | 0.999 | D | 0.838 | deleterious | None | None | None | None | N |
| L/N | 0.9963 | likely_pathogenic | 0.9952 | pathogenic | -2.055 | Highly Destabilizing | 0.998 | D | 0.886 | deleterious | None | None | None | None | N |
| L/P | 0.9981 | likely_pathogenic | 0.9968 | pathogenic | -1.728 | Destabilizing | 0.235 | N | 0.74 | deleterious | D | 0.663693977 | None | None | N |
| L/Q | 0.9941 | likely_pathogenic | 0.9915 | pathogenic | -2.139 | Highly Destabilizing | 0.998 | D | 0.877 | deleterious | None | None | None | None | N |
| L/R | 0.9915 | likely_pathogenic | 0.9871 | pathogenic | -1.353 | Destabilizing | 0.997 | D | 0.866 | deleterious | D | 0.638155865 | None | None | N |
| L/S | 0.9984 | likely_pathogenic | 0.9979 | pathogenic | -2.781 | Highly Destabilizing | 0.995 | D | 0.859 | deleterious | None | None | None | None | N |
| L/T | 0.9895 | likely_pathogenic | 0.9887 | pathogenic | -2.532 | Highly Destabilizing | 0.995 | D | 0.832 | deleterious | None | None | None | None | N |
| L/V | 0.6513 | likely_pathogenic | 0.6342 | pathogenic | -1.728 | Destabilizing | 0.989 | D | 0.836 | deleterious | D | 0.585141962 | None | None | N |
| L/W | 0.9964 | likely_pathogenic | 0.9945 | pathogenic | -2.098 | Highly Destabilizing | 1.0 | D | 0.822 | deleterious | None | None | None | None | N |
| L/Y | 0.9947 | likely_pathogenic | 0.9934 | pathogenic | -1.871 | Destabilizing | 0.999 | D | 0.845 | 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.