Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 170 | 733;734;735 | chr2:178800470;178800469;178800468 | chr2:179665197;179665196;179665195 |
| N2AB | 170 | 733;734;735 | chr2:178800470;178800469;178800468 | chr2:179665197;179665196;179665195 |
| N2A | 170 | 733;734;735 | chr2:178800470;178800469;178800468 | chr2:179665197;179665196;179665195 |
| N2B | 170 | 733;734;735 | chr2:178800470;178800469;178800468 | chr2:179665197;179665196;179665195 |
| Novex-1 | 170 | 733;734;735 | chr2:178800470;178800469;178800468 | chr2:179665197;179665196;179665195 |
| Novex-2 | 170 | 733;734;735 | chr2:178800470;178800469;178800468 | chr2:179665197;179665196;179665195 |
| Novex-3 | 170 | 733;734;735 | chr2:178800470;178800469;178800468 | chr2:179665197;179665196;179665195 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/G | None | None | 0.998 | D | 0.733 | 0.865 | 0.685291068997 | gnomAD-4.0.0 | 2.40075E-06 | None | None | None | -0.701(TCAP) | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.62513E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.9945 | likely_pathogenic | 0.9951 | pathogenic | 0.919 | Stabilizing | 1.0 | D | 0.849 | deleterious | D | 0.777229386 | None | -0.553(TCAP) | N |
| D/C | 0.9994 | likely_pathogenic | 0.9994 | pathogenic | 0.786 | Stabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | -0.866(TCAP) | N |
| D/E | 0.9794 | likely_pathogenic | 0.9855 | pathogenic | -0.246 | Destabilizing | 0.987 | D | 0.628 | neutral | D | 0.734412456 | None | -0.826(TCAP) | N |
| D/F | 0.9979 | likely_pathogenic | 0.9981 | pathogenic | 1.555 | Stabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | -0.657(TCAP) | N |
| D/G | 0.9946 | likely_pathogenic | 0.9957 | pathogenic | 0.429 | Stabilizing | 0.998 | D | 0.733 | prob.delet. | D | 0.796743607 | None | -0.701(TCAP) | N |
| D/H | 0.9879 | likely_pathogenic | 0.9874 | pathogenic | 1.196 | Stabilizing | 1.0 | D | 0.844 | deleterious | D | 0.659267993 | None | 0.579(TCAP) | N |
| D/I | 0.9981 | likely_pathogenic | 0.9984 | pathogenic | 2.235 | Highly Stabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | -0.153(TCAP) | N |
| D/K | 0.9974 | likely_pathogenic | 0.9975 | pathogenic | 0.675 | Stabilizing | 1.0 | D | 0.832 | deleterious | None | None | None | -0.19(TCAP) | N |
| D/L | 0.9969 | likely_pathogenic | 0.9973 | pathogenic | 2.235 | Highly Stabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | -0.153(TCAP) | N |
| D/M | 0.9989 | likely_pathogenic | 0.9989 | pathogenic | 2.554 | Highly Stabilizing | 1.0 | D | 0.854 | deleterious | None | None | None | 0.402(TCAP) | N |
| D/N | 0.94 | likely_pathogenic | 0.9564 | pathogenic | -0.173 | Destabilizing | 0.691 | D | 0.371 | neutral | D | 0.684748822 | None | -1.307(TCAP) | N |
| D/P | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | 1.828 | Stabilizing | 0.999 | D | 0.839 | deleterious | None | None | None | -0.277(TCAP) | N |
| D/Q | 0.9969 | likely_pathogenic | 0.9972 | pathogenic | 0.226 | Stabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | -0.961(TCAP) | N |
| D/R | 0.9982 | likely_pathogenic | 0.9984 | pathogenic | 0.528 | Stabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | -0.092(TCAP) | N |
| D/S | 0.9893 | likely_pathogenic | 0.9913 | pathogenic | -0.487 | Destabilizing | 0.998 | D | 0.656 | neutral | None | None | None | -1.261(TCAP) | N |
| D/T | 0.9971 | likely_pathogenic | 0.9975 | pathogenic | -0.023 | Destabilizing | 0.999 | D | 0.829 | deleterious | None | None | None | -1.125(TCAP) | N |
| D/V | 0.994 | likely_pathogenic | 0.9948 | pathogenic | 1.828 | Stabilizing | 1.0 | D | 0.881 | deleterious | D | 0.796713125 | None | -0.277(TCAP) | N |
| D/W | 0.9995 | likely_pathogenic | 0.9994 | pathogenic | 1.479 | Stabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | -0.81(TCAP) | N |
| D/Y | 0.9766 | likely_pathogenic | 0.9782 | pathogenic | 1.839 | Stabilizing | 1.0 | D | 0.889 | deleterious | D | 0.776538397 | None | -0.56(TCAP) | 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.