Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16523 | 49792;49793;49794 | chr2:178613242;178613241;178613240 | chr2:179477969;179477968;179477967 |
| N2AB | 14882 | 44869;44870;44871 | chr2:178613242;178613241;178613240 | chr2:179477969;179477968;179477967 |
| N2A | 13955 | 42088;42089;42090 | chr2:178613242;178613241;178613240 | chr2:179477969;179477968;179477967 |
| N2B | 7458 | 22597;22598;22599 | chr2:178613242;178613241;178613240 | chr2:179477969;179477968;179477967 |
| Novex-1 | 7583 | 22972;22973;22974 | chr2:178613242;178613241;178613240 | chr2:179477969;179477968;179477967 |
| Novex-2 | 7650 | 23173;23174;23175 | chr2:178613242;178613241;178613240 | chr2:179477969;179477968;179477967 |
| 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 | rs1553700258  |
None | 0.999 | D | 0.679 | 0.529 | 0.648577244254 | gnomAD-4.0.0 | 1.59717E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86582E-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 | 0.9996 | likely_pathogenic | 0.9996 | pathogenic | -2.47 | Highly Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | N |
| F/C | 0.9957 | likely_pathogenic | 0.9944 | pathogenic | -1.617 | Destabilizing | 1.0 | D | 0.857 | deleterious | D | 0.747576657 | None | None | N |
| F/D | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -3.55 | Highly Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| F/E | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -3.308 | Highly Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| F/G | 0.9995 | likely_pathogenic | 0.9994 | pathogenic | -2.928 | Highly Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| F/H | 0.998 | likely_pathogenic | 0.9954 | pathogenic | -2.09 | Highly Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| F/I | 0.984 | likely_pathogenic | 0.9866 | pathogenic | -0.962 | Destabilizing | 1.0 | D | 0.755 | deleterious | D | 0.581120106 | None | None | N |
| F/K | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -2.435 | Highly Destabilizing | 1.0 | D | 0.84 | deleterious | None | None | None | None | N |
| F/L | 0.9981 | likely_pathogenic | 0.9984 | pathogenic | -0.962 | Destabilizing | 0.999 | D | 0.679 | prob.neutral | D | 0.609183539 | None | None | N |
| F/M | 0.993 | likely_pathogenic | 0.992 | pathogenic | -0.658 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | N |
| F/N | 0.9996 | likely_pathogenic | 0.9994 | pathogenic | -3.202 | Highly Destabilizing | 1.0 | D | 0.882 | deleterious | None | None | None | None | N |
| F/P | 1.0 | likely_pathogenic | 1.0 | pathogenic | -1.48 | Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | N |
| F/Q | 0.9998 | likely_pathogenic | 0.9997 | pathogenic | -2.948 | Highly Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| F/R | 0.9996 | likely_pathogenic | 0.9997 | pathogenic | -2.313 | Highly Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | N |
| F/S | 0.9996 | likely_pathogenic | 0.9996 | pathogenic | -3.595 | Highly Destabilizing | 1.0 | D | 0.833 | deleterious | D | 0.780758333 | None | None | N |
| F/T | 0.9997 | likely_pathogenic | 0.9997 | pathogenic | -3.225 | Highly Destabilizing | 1.0 | D | 0.834 | deleterious | None | None | None | None | N |
| F/V | 0.9888 | likely_pathogenic | 0.9899 | pathogenic | -1.48 | Destabilizing | 1.0 | D | 0.762 | deleterious | D | 0.577395625 | None | None | N |
| F/W | 0.9565 | likely_pathogenic | 0.948 | pathogenic | -0.538 | Destabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | N |
| F/Y | 0.7918 | likely_pathogenic | 0.7236 | pathogenic | -0.892 | Destabilizing | 0.999 | D | 0.601 | neutral | D | 0.578216145 | 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.