Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23112 | 69559;69560;69561 | chr2:178577001;178577000;178576999 | chr2:179441728;179441727;179441726 |
| N2AB | 21471 | 64636;64637;64638 | chr2:178577001;178577000;178576999 | chr2:179441728;179441727;179441726 |
| N2A | 20544 | 61855;61856;61857 | chr2:178577001;178577000;178576999 | chr2:179441728;179441727;179441726 |
| N2B | 14047 | 42364;42365;42366 | chr2:178577001;178577000;178576999 | chr2:179441728;179441727;179441726 |
| Novex-1 | 14172 | 42739;42740;42741 | chr2:178577001;178577000;178576999 | chr2:179441728;179441727;179441726 |
| Novex-2 | 14239 | 42940;42941;42942 | chr2:178577001;178577000;178576999 | chr2:179441728;179441727;179441726 |
| 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/C | rs1379413245  |
-1.124 | 1.0 | D | 0.835 | 0.663 | 0.723112547439 | gnomAD-2.1.1 | 6.37E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.29651E-04 | 0 |
| F/C | rs1379413245 |
-1.124 | 1.0 | D | 0.835 | 0.663 | 0.723112547439 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 4.41E-05 | 0 | 0 |
| F/C | rs1379413245 |
-1.124 | 1.0 | D | 0.835 | 0.663 | 0.723112547439 | gnomAD-4.0.0 | 1.48758E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.03463E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/A | 0.9984 | likely_pathogenic | 0.9983 | pathogenic | -2.115 | Highly Destabilizing | 1.0 | D | 0.784 | deleterious | None | None | None | None | N |
| F/C | 0.987 | likely_pathogenic | 0.9839 | pathogenic | -1.191 | Destabilizing | 1.0 | D | 0.835 | deleterious | D | 0.570014951 | None | None | N |
| F/D | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -3.074 | Highly Destabilizing | 1.0 | D | 0.84 | deleterious | None | None | None | None | N |
| F/E | 0.9998 | likely_pathogenic | 0.9999 | pathogenic | -2.82 | Highly Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| F/G | 0.9989 | likely_pathogenic | 0.999 | pathogenic | -2.586 | Highly Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| F/H | 0.9975 | likely_pathogenic | 0.9978 | pathogenic | -1.919 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| F/I | 0.9313 | likely_pathogenic | 0.9341 | pathogenic | -0.57 | Destabilizing | 1.0 | D | 0.781 | deleterious | N | 0.50946708 | None | None | N |
| F/K | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -1.939 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| F/L | 0.9915 | likely_pathogenic | 0.9909 | pathogenic | -0.57 | Destabilizing | 0.999 | D | 0.662 | neutral | N | 0.516330388 | None | None | N |
| F/M | 0.9787 | likely_pathogenic | 0.9779 | pathogenic | -0.337 | Destabilizing | 1.0 | D | 0.794 | deleterious | None | None | None | None | N |
| F/N | 0.9996 | likely_pathogenic | 0.9996 | pathogenic | -2.703 | Highly Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | N |
| F/P | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -1.099 | Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| F/Q | 0.9996 | likely_pathogenic | 0.9997 | pathogenic | -2.39 | Highly Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| F/R | 0.9992 | likely_pathogenic | 0.9994 | pathogenic | -2.02 | Highly Destabilizing | 1.0 | D | 0.878 | deleterious | None | None | None | None | N |
| F/S | 0.9985 | likely_pathogenic | 0.9984 | pathogenic | -3.094 | Highly Destabilizing | 1.0 | D | 0.827 | deleterious | D | 0.570014951 | None | None | N |
| F/T | 0.9986 | likely_pathogenic | 0.9986 | pathogenic | -2.705 | Highly Destabilizing | 1.0 | D | 0.826 | deleterious | None | None | None | None | N |
| F/V | 0.9504 | likely_pathogenic | 0.9488 | pathogenic | -1.099 | Destabilizing | 1.0 | D | 0.75 | deleterious | N | 0.50895642 | None | None | N |
| F/W | 0.933 | likely_pathogenic | 0.9423 | pathogenic | -0.213 | Destabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | N |
| F/Y | 0.8429 | likely_pathogenic | 0.8577 | pathogenic | -0.558 | Destabilizing | 0.999 | D | 0.591 | neutral | N | 0.518549342 | 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.