Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 35922 | 107989;107990;107991 | chr2:178527224;178527223;178527222 | chr2:179391951;179391950;179391949 |
| N2AB | 34281 | 103066;103067;103068 | chr2:178527224;178527223;178527222 | chr2:179391951;179391950;179391949 |
| N2A | 33354 | 100285;100286;100287 | chr2:178527224;178527223;178527222 | chr2:179391951;179391950;179391949 |
| N2B | 26857 | 80794;80795;80796 | chr2:178527224;178527223;178527222 | chr2:179391951;179391950;179391949 |
| Novex-1 | 26982 | 81169;81170;81171 | chr2:178527224;178527223;178527222 | chr2:179391951;179391950;179391949 |
| Novex-2 | 27049 | 81370;81371;81372 | chr2:178527224;178527223;178527222 | chr2:179391951;179391950;179391949 |
| 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/S | None | None | 1.0 | D | 0.825 | 0.661 | 0.580120749226 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | -1.543(OBSL1) -0.986(OBSCN) | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.6885 | likely_pathogenic | 0.6276 | pathogenic | -0.656 | Destabilizing | 1.0 | D | 0.75 | deleterious | D | 0.581012845 | None | -1.024(OBSL1) -0.812(OBSCN) | N |
| G/C | 0.9522 | likely_pathogenic | 0.9372 | pathogenic | -0.804 | Destabilizing | 1.0 | D | 0.694 | prob.neutral | D | 0.642329495 | None | -2.05(OBSL1) -1.123(OBSCN) | N |
| G/D | 0.9731 | likely_pathogenic | 0.9617 | pathogenic | -1.222 | Destabilizing | 1.0 | D | 0.852 | deleterious | D | 0.641118669 | None | -2.23(OBSL1) -1.457(OBSCN) | N |
| G/E | 0.9739 | likely_pathogenic | 0.9644 | pathogenic | -1.336 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | -2.39(OBSL1) -1.641(OBSCN) | N |
| G/F | 0.9955 | likely_pathogenic | 0.9946 | pathogenic | -1.168 | Destabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | -1.362(OBSL1) -0.812(OBSCN) | N |
| G/H | 0.9946 | likely_pathogenic | 0.9919 | pathogenic | -1.273 | Destabilizing | 1.0 | D | 0.673 | neutral | None | None | None | -1.148(OBSL1) -0.725(OBSCN) | N |
| G/I | 0.987 | likely_pathogenic | 0.9838 | pathogenic | -0.484 | Destabilizing | 1.0 | D | 0.764 | deleterious | None | None | None | -1.511(OBSL1) -1.261(OBSCN) | N |
| G/K | 0.9915 | likely_pathogenic | 0.987 | pathogenic | -1.33 | Destabilizing | 1.0 | D | 0.812 | deleterious | None | None | None | -2.426(OBSL1) -1.953(OBSCN) | N |
| G/L | 0.9877 | likely_pathogenic | 0.9847 | pathogenic | -0.484 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | -1.511(OBSL1) -1.261(OBSCN) | N |
| G/M | 0.9932 | likely_pathogenic | 0.9908 | pathogenic | -0.35 | Destabilizing | 1.0 | D | 0.691 | prob.neutral | None | None | None | -1.615(OBSL1) -0.995(OBSCN) | N |
| G/N | 0.9847 | likely_pathogenic | 0.9785 | pathogenic | -0.864 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | -1.797(OBSL1) -1.372(OBSCN) | N |
| G/P | 0.997 | likely_pathogenic | 0.9958 | pathogenic | -0.503 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | -1.343(OBSL1) -1.107(OBSCN) | N |
| G/Q | 0.9836 | likely_pathogenic | 0.9768 | pathogenic | -1.123 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | -2.003(OBSL1) -1.459(OBSCN) | N |
| G/R | 0.9677 | likely_pathogenic | 0.9552 | pathogenic | -0.914 | Destabilizing | 1.0 | D | 0.798 | deleterious | D | 0.641925886 | None | -2.421(OBSL1) -2.187(OBSCN) | N |
| G/S | 0.6848 | likely_pathogenic | 0.6074 | pathogenic | -1.0 | Destabilizing | 1.0 | D | 0.825 | deleterious | D | 0.578403853 | None | -1.543(OBSL1) -0.986(OBSCN) | N |
| G/T | 0.9361 | likely_pathogenic | 0.9148 | pathogenic | -1.053 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | -1.739(OBSL1) -1.181(OBSCN) | N |
| G/V | 0.9594 | likely_pathogenic | 0.9487 | pathogenic | -0.503 | Destabilizing | 1.0 | D | 0.789 | deleterious | D | 0.641925886 | None | -1.343(OBSL1) -1.107(OBSCN) | N |
| G/W | 0.9882 | likely_pathogenic | 0.9843 | pathogenic | -1.458 | Destabilizing | 1.0 | D | 0.676 | prob.neutral | None | None | None | -1.617(OBSL1) -0.937(OBSCN) | N |
| G/Y | 0.9939 | likely_pathogenic | 0.9916 | pathogenic | -1.093 | Destabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | -1.337(OBSL1) -0.806(OBSCN) | 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.