Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9465 | 28618;28619;28620 | chr2:178710704;178710703;178710702 | chr2:179575431;179575430;179575429 |
| N2AB | 9148 | 27667;27668;27669 | chr2:178710704;178710703;178710702 | chr2:179575431;179575430;179575429 |
| N2A | 8221 | 24886;24887;24888 | chr2:178710704;178710703;178710702 | chr2:179575431;179575430;179575429 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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/E | rs553570568  |
-1.817 | 0.989 | None | 0.741 | 0.575 | 0.83849760362 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 6.46E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/E | rs553570568 |
-1.817 | 0.989 | None | 0.741 | 0.575 | 0.83849760362 | gnomAD-4.0.0 | 1.64237E-05 | None | None | None | None | N | None | 2.98829E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 2.06872E-05 | 0 | 0 |
| G/R | rs747684566 |
-0.741 | 1.0 | None | 0.815 | 0.576 | 0.892002138555 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.87E-06 | 0 |
| G/R | rs747684566 |
-0.741 | 1.0 | None | 0.815 | 0.576 | 0.892002138555 | gnomAD-4.0.0 | 6.84308E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99439E-07 | 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 | 0.4515 | ambiguous | 0.6502 | pathogenic | -0.855 | Destabilizing | 0.999 | D | 0.804 | deleterious | None | None | None | None | N |
| G/C | 0.8557 | likely_pathogenic | 0.9264 | pathogenic | -1.108 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | N |
| G/D | 0.9202 | likely_pathogenic | 0.953 | pathogenic | -1.494 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| G/E | 0.9446 | likely_pathogenic | 0.9652 | pathogenic | -1.484 | Destabilizing | 0.989 | D | 0.741 | deleterious | None | None | None | None | N |
| G/F | 0.98 | likely_pathogenic | 0.9876 | pathogenic | -1.074 | Destabilizing | 1.0 | D | 0.826 | deleterious | None | None | None | None | N |
| G/H | 0.9725 | likely_pathogenic | 0.9875 | pathogenic | -1.605 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| G/I | 0.967 | likely_pathogenic | 0.9863 | pathogenic | -0.227 | Destabilizing | 1.0 | D | 0.832 | deleterious | None | None | None | None | N |
| G/K | 0.9759 | likely_pathogenic | 0.9871 | pathogenic | -1.324 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| G/L | 0.9578 | likely_pathogenic | 0.9802 | pathogenic | -0.227 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| G/M | 0.9766 | likely_pathogenic | 0.99 | pathogenic | -0.221 | Destabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | N |
| G/N | 0.9403 | likely_pathogenic | 0.9682 | pathogenic | -1.149 | Destabilizing | 1.0 | D | 0.844 | deleterious | None | None | None | None | N |
| G/P | 0.9966 | likely_pathogenic | 0.9974 | pathogenic | -0.393 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| G/Q | 0.941 | likely_pathogenic | 0.9672 | pathogenic | -1.236 | Destabilizing | 1.0 | D | 0.812 | deleterious | None | None | None | None | N |
| G/R | 0.9234 | likely_pathogenic | 0.955 | pathogenic | -1.111 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| G/S | 0.4014 | ambiguous | 0.5915 | pathogenic | -1.479 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| G/T | 0.8714 | likely_pathogenic | 0.9368 | pathogenic | -1.372 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| G/V | 0.9242 | likely_pathogenic | 0.9658 | pathogenic | -0.393 | Destabilizing | 1.0 | D | 0.816 | deleterious | None | None | None | None | N |
| G/W | 0.9714 | likely_pathogenic | 0.983 | pathogenic | -1.552 | Destabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | N |
| G/Y | 0.9788 | likely_pathogenic | 0.9888 | pathogenic | -1.08 | Destabilizing | 1.0 | D | 0.823 | 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.