Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21832 | 65719;65720;65721 | chr2:178583688;178583687;178583686 | chr2:179448415;179448414;179448413 |
| N2AB | 20191 | 60796;60797;60798 | chr2:178583688;178583687;178583686 | chr2:179448415;179448414;179448413 |
| N2A | 19264 | 58015;58016;58017 | chr2:178583688;178583687;178583686 | chr2:179448415;179448414;179448413 |
| N2B | 12767 | 38524;38525;38526 | chr2:178583688;178583687;178583686 | chr2:179448415;179448414;179448413 |
| Novex-1 | 12892 | 38899;38900;38901 | chr2:178583688;178583687;178583686 | chr2:179448415;179448414;179448413 |
| Novex-2 | 12959 | 39100;39101;39102 | chr2:178583688;178583687;178583686 | chr2:179448415;179448414;179448413 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/L | rs1366676743  |
-1.913 | 0.999 | N | 0.65 | 0.532 | 0.341226946553 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 8.74E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| F/L | rs1366676743 |
-1.913 | 0.999 | N | 0.65 | 0.532 | 0.341226946553 | gnomAD-4.0.0 | 3.18942E-06 | None | None | None | None | N | None | 0 | 4.58106E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| F/S | None | None | 1.0 | D | 0.869 | 0.664 | 0.862863435949 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/A | 0.999 | likely_pathogenic | 0.9988 | pathogenic | -2.696 | Highly Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| F/C | 0.9937 | likely_pathogenic | 0.9899 | pathogenic | -1.706 | Destabilizing | 1.0 | D | 0.875 | deleterious | D | 0.548619013 | None | None | N |
| F/D | 0.9997 | likely_pathogenic | 0.9998 | pathogenic | -3.419 | Highly Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| F/E | 0.9997 | likely_pathogenic | 0.9997 | pathogenic | -3.183 | Highly Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| F/G | 0.9987 | likely_pathogenic | 0.9985 | pathogenic | -3.165 | Highly Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| F/H | 0.9977 | likely_pathogenic | 0.9973 | pathogenic | -1.927 | Destabilizing | 1.0 | D | 0.899 | deleterious | None | None | None | None | N |
| F/I | 0.9548 | likely_pathogenic | 0.9277 | pathogenic | -1.152 | Destabilizing | 1.0 | D | 0.779 | deleterious | N | 0.500744121 | None | None | N |
| F/K | 0.9997 | likely_pathogenic | 0.9997 | pathogenic | -2.233 | Highly Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| F/L | 0.9945 | likely_pathogenic | 0.9929 | pathogenic | -1.152 | Destabilizing | 0.999 | D | 0.65 | neutral | N | 0.508101181 | None | None | N |
| F/M | 0.9865 | likely_pathogenic | 0.9799 | pathogenic | -0.836 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| F/N | 0.9992 | likely_pathogenic | 0.999 | pathogenic | -2.882 | Highly Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | N |
| F/P | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -1.681 | Destabilizing | 1.0 | D | 0.892 | deleterious | None | None | None | None | N |
| F/Q | 0.9995 | likely_pathogenic | 0.9994 | pathogenic | -2.73 | Highly Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | N |
| F/R | 0.9989 | likely_pathogenic | 0.9989 | pathogenic | -1.924 | Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | N |
| F/S | 0.9992 | likely_pathogenic | 0.999 | pathogenic | -3.43 | Highly Destabilizing | 1.0 | D | 0.869 | deleterious | D | 0.548619013 | None | None | N |
| F/T | 0.9994 | likely_pathogenic | 0.999 | pathogenic | -3.069 | Highly Destabilizing | 1.0 | D | 0.864 | deleterious | None | None | None | None | N |
| F/V | 0.9711 | likely_pathogenic | 0.9554 | pathogenic | -1.681 | Destabilizing | 1.0 | D | 0.827 | deleterious | N | 0.493485511 | None | None | N |
| F/W | 0.9346 | likely_pathogenic | 0.9264 | pathogenic | -0.414 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| F/Y | 0.6606 | likely_pathogenic | 0.6099 | pathogenic | -0.804 | Destabilizing | 0.999 | D | 0.571 | neutral | N | 0.49501381 | 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.