Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21980 | 66163;66164;66165 | chr2:178582518;178582517;178582516 | chr2:179447245;179447244;179447243 |
| N2AB | 20339 | 61240;61241;61242 | chr2:178582518;178582517;178582516 | chr2:179447245;179447244;179447243 |
| N2A | 19412 | 58459;58460;58461 | chr2:178582518;178582517;178582516 | chr2:179447245;179447244;179447243 |
| N2B | 12915 | 38968;38969;38970 | chr2:178582518;178582517;178582516 | chr2:179447245;179447244;179447243 |
| Novex-1 | 13040 | 39343;39344;39345 | chr2:178582518;178582517;178582516 | chr2:179447245;179447244;179447243 |
| Novex-2 | 13107 | 39544;39545;39546 | chr2:178582518;178582517;178582516 | chr2:179447245;179447244;179447243 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/L | None | None | 1.0 | D | 0.893 | 0.677 | 0.894379702187 | gnomAD-4.0.0 | 1.59316E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86169E-06 | 0 | 0 |
| P/S | None | None | 1.0 | D | 0.837 | 0.617 | 0.591083742983 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.9271 | likely_pathogenic | 0.8837 | pathogenic | -1.873 | Destabilizing | 1.0 | D | 0.817 | deleterious | D | 0.60272401 | None | None | N |
| P/C | 0.9907 | likely_pathogenic | 0.9838 | pathogenic | -1.152 | Destabilizing | 1.0 | D | 0.856 | deleterious | None | None | None | None | N |
| P/D | 0.9994 | likely_pathogenic | 0.9989 | pathogenic | -2.435 | Highly Destabilizing | 1.0 | D | 0.832 | deleterious | None | None | None | None | N |
| P/E | 0.9987 | likely_pathogenic | 0.9978 | pathogenic | -2.336 | Highly Destabilizing | 1.0 | D | 0.834 | deleterious | None | None | None | None | N |
| P/F | 0.9997 | likely_pathogenic | 0.9995 | pathogenic | -1.295 | Destabilizing | 1.0 | D | 0.88 | deleterious | None | None | None | None | N |
| P/G | 0.9947 | likely_pathogenic | 0.9923 | pathogenic | -2.296 | Highly Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | N |
| P/H | 0.9982 | likely_pathogenic | 0.9971 | pathogenic | -2.129 | Highly Destabilizing | 1.0 | D | 0.87 | deleterious | D | 0.648369365 | None | None | N |
| P/I | 0.9955 | likely_pathogenic | 0.9903 | pathogenic | -0.748 | Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | N |
| P/K | 0.9994 | likely_pathogenic | 0.9991 | pathogenic | -1.716 | Destabilizing | 1.0 | D | 0.83 | deleterious | None | None | None | None | N |
| P/L | 0.9859 | likely_pathogenic | 0.9758 | pathogenic | -0.748 | Destabilizing | 1.0 | D | 0.893 | deleterious | D | 0.631340983 | None | None | N |
| P/M | 0.9982 | likely_pathogenic | 0.996 | pathogenic | -0.486 | Destabilizing | 1.0 | D | 0.864 | deleterious | None | None | None | None | N |
| P/N | 0.9992 | likely_pathogenic | 0.9985 | pathogenic | -1.666 | Destabilizing | 1.0 | D | 0.886 | deleterious | None | None | None | None | N |
| P/Q | 0.9982 | likely_pathogenic | 0.9968 | pathogenic | -1.703 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| P/R | 0.9975 | likely_pathogenic | 0.9963 | pathogenic | -1.316 | Destabilizing | 1.0 | D | 0.885 | deleterious | D | 0.615896674 | None | None | N |
| P/S | 0.989 | likely_pathogenic | 0.978 | pathogenic | -2.138 | Highly Destabilizing | 1.0 | D | 0.837 | deleterious | D | 0.58026476 | None | None | N |
| P/T | 0.9881 | likely_pathogenic | 0.9769 | pathogenic | -1.929 | Destabilizing | 1.0 | D | 0.835 | deleterious | D | 0.61569487 | None | None | N |
| P/V | 0.9804 | likely_pathogenic | 0.9628 | pathogenic | -1.093 | Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | None | None | N |
| P/W | 0.9999 | likely_pathogenic | 0.9998 | pathogenic | -1.757 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| P/Y | 0.9997 | likely_pathogenic | 0.9994 | pathogenic | -1.415 | Destabilizing | 1.0 | D | 0.887 | 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.