Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22811 | 68656;68657;68658 | chr2:178578084;178578083;178578082 | chr2:179442811;179442810;179442809 |
| N2AB | 21170 | 63733;63734;63735 | chr2:178578084;178578083;178578082 | chr2:179442811;179442810;179442809 |
| N2A | 20243 | 60952;60953;60954 | chr2:178578084;178578083;178578082 | chr2:179442811;179442810;179442809 |
| N2B | 13746 | 41461;41462;41463 | chr2:178578084;178578083;178578082 | chr2:179442811;179442810;179442809 |
| Novex-1 | 13871 | 41836;41837;41838 | chr2:178578084;178578083;178578082 | chr2:179442811;179442810;179442809 |
| Novex-2 | 13938 | 42037;42038;42039 | chr2:178578084;178578083;178578082 | chr2:179442811;179442810;179442809 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/D | rs78806155  |
-0.764 | 1.0 | N | 0.783 | 0.58 | 0.460703734027 | gnomAD-2.1.1 | 1.61E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 3.57E-05 | 0 |
| G/D | rs78806155 |
-0.764 | 1.0 | N | 0.783 | 0.58 | 0.460703734027 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| G/D | rs78806155 |
-0.764 | 1.0 | N | 0.783 | 0.58 | 0.460703734027 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 0 | 1E-03 | None | None | None | 0 | None |
| G/D | rs78806155 |
-0.764 | 1.0 | N | 0.783 | 0.58 | 0.460703734027 | gnomAD-4.0.0 | 6.19865E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.47833E-06 | 0 | 0 |
| G/S | None | None | 0.991 | N | 0.667 | 0.475 | 0.372087925617 | gnomAD-4.0.0 | 3.601E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.62503E-06 | 0 | 3.66327E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.7759 | likely_pathogenic | 0.75 | pathogenic | -0.514 | Destabilizing | 0.998 | D | 0.628 | neutral | N | 0.501396593 | None | None | N |
| G/C | 0.854 | likely_pathogenic | 0.8404 | pathogenic | -0.864 | Destabilizing | 1.0 | D | 0.851 | deleterious | D | 0.556420601 | None | None | N |
| G/D | 0.8857 | likely_pathogenic | 0.9059 | pathogenic | -0.804 | Destabilizing | 1.0 | D | 0.783 | deleterious | N | 0.488367993 | None | None | N |
| G/E | 0.9406 | likely_pathogenic | 0.9425 | pathogenic | -0.921 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| G/F | 0.9671 | likely_pathogenic | 0.9666 | pathogenic | -0.979 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| G/H | 0.9599 | likely_pathogenic | 0.9631 | pathogenic | -0.886 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| G/I | 0.9657 | likely_pathogenic | 0.9549 | pathogenic | -0.407 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| G/K | 0.9778 | likely_pathogenic | 0.9799 | pathogenic | -1.161 | Destabilizing | 1.0 | D | 0.852 | deleterious | None | None | None | None | N |
| G/L | 0.9555 | likely_pathogenic | 0.9538 | pathogenic | -0.407 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| G/M | 0.9503 | likely_pathogenic | 0.9467 | pathogenic | -0.413 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| G/N | 0.7888 | likely_pathogenic | 0.806 | pathogenic | -0.807 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| G/P | 0.9975 | likely_pathogenic | 0.9968 | pathogenic | -0.405 | Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| G/Q | 0.9539 | likely_pathogenic | 0.9566 | pathogenic | -1.047 | Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| G/R | 0.9619 | likely_pathogenic | 0.9649 | pathogenic | -0.716 | Destabilizing | 1.0 | D | 0.872 | deleterious | D | 0.528655107 | None | None | N |
| G/S | 0.6177 | likely_pathogenic | 0.6232 | pathogenic | -0.996 | Destabilizing | 0.991 | D | 0.667 | neutral | N | 0.486063815 | None | None | N |
| G/T | 0.8804 | likely_pathogenic | 0.8718 | pathogenic | -1.041 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| G/V | 0.9389 | likely_pathogenic | 0.9251 | pathogenic | -0.405 | Destabilizing | 1.0 | D | 0.869 | deleterious | D | 0.544557316 | None | None | N |
| G/W | 0.9535 | likely_pathogenic | 0.9554 | pathogenic | -1.233 | Destabilizing | 1.0 | D | 0.844 | deleterious | None | None | None | None | N |
| G/Y | 0.9253 | likely_pathogenic | 0.9323 | pathogenic | -0.864 | Destabilizing | 1.0 | D | 0.862 | 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.