Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26516 | 79771;79772;79773 | chr2:178566586;178566585;178566584 | chr2:179431313;179431312;179431311 |
| N2AB | 24875 | 74848;74849;74850 | chr2:178566586;178566585;178566584 | chr2:179431313;179431312;179431311 |
| N2A | 23948 | 72067;72068;72069 | chr2:178566586;178566585;178566584 | chr2:179431313;179431312;179431311 |
| N2B | 17451 | 52576;52577;52578 | chr2:178566586;178566585;178566584 | chr2:179431313;179431312;179431311 |
| Novex-1 | 17576 | 52951;52952;52953 | chr2:178566586;178566585;178566584 | chr2:179431313;179431312;179431311 |
| Novex-2 | 17643 | 53152;53153;53154 | chr2:178566586;178566585;178566584 | chr2:179431313;179431312;179431311 |
| 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/D | None | None | 1.0 | N | 0.713 | 0.739 | 0.383921772103 | gnomAD-4.0.0 | 1.59388E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85891E-06 | 0 | 0 |
| G/S | rs776256093  |
-0.54 | 1.0 | N | 0.706 | 0.68 | None | gnomAD-2.1.1 | 3.58E-05 | None | None | None | None | I | None | 4.14E-05 | 8.48E-05 | None | 0 | 0 | None | 0 | None | 0 | 3.92E-05 | 1.40568E-04 |
| G/S | rs776256093 |
-0.54 | 1.0 | N | 0.706 | 0.68 | None | gnomAD-3.1.2 | 1.51264E-04 | None | None | None | None | I | None | 2.41E-05 | 1.18017E-03 | 0 | 0 | 0 | None | 0 | 0 | 4.41E-05 | 0 | 4.78927E-04 |
| G/S | rs776256093 |
-0.54 | 1.0 | N | 0.706 | 0.68 | None | gnomAD-4.0.0 | 2.66654E-05 | None | None | None | None | I | None | 2.67115E-05 | 3.83525E-04 | None | 0 | 0 | None | 0 | 0 | 1.10201E-05 | 0 | 8.00794E-05 |
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 | 0.7352 | likely_pathogenic | 0.7351 | pathogenic | -0.242 | Destabilizing | 1.0 | D | 0.623 | neutral | N | 0.500977021 | None | None | I |
| G/C | 0.7788 | likely_pathogenic | 0.7998 | pathogenic | -0.858 | Destabilizing | 1.0 | D | 0.793 | deleterious | D | 0.547189165 | None | None | I |
| G/D | 0.9234 | likely_pathogenic | 0.9371 | pathogenic | -0.293 | Destabilizing | 1.0 | D | 0.713 | prob.delet. | N | 0.513485416 | None | None | I |
| G/E | 0.9443 | likely_pathogenic | 0.9523 | pathogenic | -0.451 | Destabilizing | 1.0 | D | 0.798 | deleterious | None | None | None | None | I |
| G/F | 0.9737 | likely_pathogenic | 0.9725 | pathogenic | -0.962 | Destabilizing | 1.0 | D | 0.782 | deleterious | None | None | None | None | I |
| G/H | 0.9354 | likely_pathogenic | 0.9535 | pathogenic | -0.392 | Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | I |
| G/I | 0.9614 | likely_pathogenic | 0.9565 | pathogenic | -0.416 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | I |
| G/K | 0.93 | likely_pathogenic | 0.9549 | pathogenic | -0.612 | Destabilizing | 1.0 | D | 0.798 | deleterious | None | None | None | None | I |
| G/L | 0.9523 | likely_pathogenic | 0.9563 | pathogenic | -0.416 | Destabilizing | 1.0 | D | 0.806 | deleterious | None | None | None | None | I |
| G/M | 0.962 | likely_pathogenic | 0.9653 | pathogenic | -0.515 | Destabilizing | 1.0 | D | 0.79 | deleterious | None | None | None | None | I |
| G/N | 0.8538 | likely_pathogenic | 0.8814 | pathogenic | -0.287 | Destabilizing | 1.0 | D | 0.695 | prob.neutral | None | None | None | None | I |
| G/P | 0.9953 | likely_pathogenic | 0.9954 | pathogenic | -0.327 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | I |
| G/Q | 0.8939 | likely_pathogenic | 0.9241 | pathogenic | -0.544 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | I |
| G/R | 0.8552 | likely_pathogenic | 0.8998 | pathogenic | -0.208 | Destabilizing | 1.0 | D | 0.812 | deleterious | N | 0.511688217 | None | None | I |
| G/S | 0.559 | ambiguous | 0.5823 | pathogenic | -0.471 | Destabilizing | 1.0 | D | 0.706 | prob.neutral | N | 0.50607913 | None | None | I |
| G/T | 0.8942 | likely_pathogenic | 0.9007 | pathogenic | -0.552 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | I |
| G/V | 0.94 | likely_pathogenic | 0.9356 | pathogenic | -0.327 | Destabilizing | 1.0 | D | 0.796 | deleterious | D | 0.545921717 | None | None | I |
| G/W | 0.9598 | likely_pathogenic | 0.9641 | pathogenic | -1.092 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | I |
| G/Y | 0.9465 | likely_pathogenic | 0.9516 | pathogenic | -0.748 | Destabilizing | 1.0 | D | 0.774 | deleterious | None | None | None | None | I |
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.