Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31622 | 95089;95090;95091 | chr2:178546467;178546466;178546465 | chr2:179411194;179411193;179411192 |
| N2AB | 29981 | 90166;90167;90168 | chr2:178546467;178546466;178546465 | chr2:179411194;179411193;179411192 |
| N2A | 29054 | 87385;87386;87387 | chr2:178546467;178546466;178546465 | chr2:179411194;179411193;179411192 |
| N2B | 22557 | 67894;67895;67896 | chr2:178546467;178546466;178546465 | chr2:179411194;179411193;179411192 |
| Novex-1 | 22682 | 68269;68270;68271 | chr2:178546467;178546466;178546465 | chr2:179411194;179411193;179411192 |
| Novex-2 | 22749 | 68470;68471;68472 | chr2:178546467;178546466;178546465 | chr2:179411194;179411193;179411192 |
| 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 | 0.753 | 0.416 | 0.301789629655 | gnomAD-4.0.0 | 1.59229E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86046E-06 | 0 | 0 |
| G/S | rs1385680314  |
None | 1.0 | N | 0.732 | 0.33 | 0.236890367714 | gnomAD-4.0.0 | 2.05357E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.52309E-05 | None | 0 | 0 | 8.99854E-07 | 1.1599E-05 | 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 | 0.1301 | likely_benign | 0.1348 | benign | -0.255 | Destabilizing | 1.0 | D | 0.675 | prob.neutral | N | 0.489665765 | None | None | N |
| G/C | 0.195 | likely_benign | 0.2045 | benign | -0.937 | Destabilizing | 1.0 | D | 0.725 | prob.delet. | N | 0.510254468 | None | None | N |
| G/D | 0.2324 | likely_benign | 0.263 | benign | -0.736 | Destabilizing | 1.0 | D | 0.753 | deleterious | N | 0.49018584 | None | None | N |
| G/E | 0.2385 | likely_benign | 0.2673 | benign | -0.891 | Destabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | N |
| G/F | 0.6349 | likely_pathogenic | 0.6616 | pathogenic | -1.02 | Destabilizing | 1.0 | D | 0.729 | prob.delet. | None | None | None | None | N |
| G/H | 0.3396 | likely_benign | 0.3734 | ambiguous | -0.411 | Destabilizing | 1.0 | D | 0.715 | prob.delet. | None | None | None | None | N |
| G/I | 0.3508 | ambiguous | 0.3671 | ambiguous | -0.479 | Destabilizing | 1.0 | D | 0.732 | prob.delet. | None | None | None | None | N |
| G/K | 0.3469 | ambiguous | 0.3958 | ambiguous | -0.815 | Destabilizing | 1.0 | D | 0.744 | deleterious | None | None | None | None | N |
| G/L | 0.4285 | ambiguous | 0.459 | ambiguous | -0.479 | Destabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | None | N |
| G/M | 0.4607 | ambiguous | 0.4873 | ambiguous | -0.694 | Destabilizing | 1.0 | D | 0.723 | prob.delet. | None | None | None | None | N |
| G/N | 0.2597 | likely_benign | 0.2732 | benign | -0.456 | Destabilizing | 1.0 | D | 0.738 | prob.delet. | None | None | None | None | N |
| G/P | 0.6687 | likely_pathogenic | 0.6945 | pathogenic | -0.377 | Destabilizing | 1.0 | D | 0.733 | prob.delet. | None | None | None | None | N |
| G/Q | 0.2838 | likely_benign | 0.3152 | benign | -0.725 | Destabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | N |
| G/R | 0.2462 | likely_benign | 0.2856 | benign | -0.389 | Destabilizing | 1.0 | D | 0.733 | prob.delet. | N | 0.409743544 | None | None | N |
| G/S | 0.0969 | likely_benign | 0.0975 | benign | -0.561 | Destabilizing | 1.0 | D | 0.732 | prob.delet. | N | 0.451800811 | None | None | N |
| G/T | 0.15 | likely_benign | 0.1561 | benign | -0.656 | Destabilizing | 1.0 | D | 0.742 | deleterious | None | None | None | None | N |
| G/V | 0.2052 | likely_benign | 0.2132 | benign | -0.377 | Destabilizing | 1.0 | D | 0.747 | deleterious | N | 0.509214318 | None | None | N |
| G/W | 0.3985 | ambiguous | 0.4244 | ambiguous | -1.147 | Destabilizing | 1.0 | D | 0.718 | prob.delet. | None | None | None | None | N |
| G/Y | 0.4727 | ambiguous | 0.507 | ambiguous | -0.83 | Destabilizing | 1.0 | D | 0.724 | prob.delet. | 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.