Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29389 | 88390;88391;88392 | chr2:178556989;178556988;178556987 | chr2:179421716;179421715;179421714 |
| N2AB | 27748 | 83467;83468;83469 | chr2:178556989;178556988;178556987 | chr2:179421716;179421715;179421714 |
| N2A | 26821 | 80686;80687;80688 | chr2:178556989;178556988;178556987 | chr2:179421716;179421715;179421714 |
| N2B | 20324 | 61195;61196;61197 | chr2:178556989;178556988;178556987 | chr2:179421716;179421715;179421714 |
| Novex-1 | 20449 | 61570;61571;61572 | chr2:178556989;178556988;178556987 | chr2:179421716;179421715;179421714 |
| Novex-2 | 20516 | 61771;61772;61773 | chr2:178556989;178556988;178556987 | chr2:179421716;179421715;179421714 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/D | rs1343788854  |
0.684 | 0.999 | D | 0.659 | 0.419 | 0.245660935333 | gnomAD-2.1.1 | 3.18E-05 | None | None | None | None | I | None | 1.14758E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| N/D | rs1343788854 |
0.684 | 0.999 | D | 0.659 | 0.419 | 0.245660935333 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| N/D | rs1343788854 |
0.684 | 0.999 | D | 0.659 | 0.419 | 0.245660935333 | gnomAD-4.0.0 | 6.57142E-06 | None | None | None | None | I | None | 2.41348E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| N/S | rs1016296780 |
None | 0.999 | N | 0.621 | 0.394 | 0.193865811164 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.88E-06 | 0 |
| N/S | rs1016296780 |
None | 0.999 | N | 0.621 | 0.394 | 0.193865811164 | gnomAD-4.0.0 | 7.52639E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99441E-06 | 0 | 1.65662E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/A | 0.3261 | likely_benign | 0.2652 | benign | -0.564 | Destabilizing | 1.0 | D | 0.667 | neutral | None | None | None | None | I |
| N/C | 0.4843 | ambiguous | 0.4304 | ambiguous | 0.263 | Stabilizing | 1.0 | D | 0.734 | prob.delet. | None | None | None | None | I |
| N/D | 0.3147 | likely_benign | 0.2328 | benign | 0.085 | Stabilizing | 0.999 | D | 0.659 | neutral | D | 0.52361805 | None | None | I |
| N/E | 0.7326 | likely_pathogenic | 0.633 | pathogenic | 0.061 | Stabilizing | 0.999 | D | 0.729 | prob.delet. | None | None | None | None | I |
| N/F | 0.762 | likely_pathogenic | 0.6882 | pathogenic | -0.862 | Destabilizing | 1.0 | D | 0.723 | prob.delet. | None | None | None | None | I |
| N/G | 0.4863 | ambiguous | 0.4142 | ambiguous | -0.75 | Destabilizing | 0.999 | D | 0.621 | neutral | None | None | None | None | I |
| N/H | 0.2096 | likely_benign | 0.1844 | benign | -0.772 | Destabilizing | 1.0 | D | 0.687 | prob.neutral | N | 0.469268871 | None | None | I |
| N/I | 0.3179 | likely_benign | 0.2535 | benign | -0.151 | Destabilizing | 1.0 | D | 0.754 | deleterious | N | 0.469762623 | None | None | I |
| N/K | 0.7188 | likely_pathogenic | 0.6104 | pathogenic | 0.132 | Stabilizing | 1.0 | D | 0.736 | prob.delet. | D | 0.522231183 | None | None | I |
| N/L | 0.3221 | likely_benign | 0.2755 | benign | -0.151 | Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | I |
| N/M | 0.4528 | ambiguous | 0.3838 | ambiguous | 0.375 | Stabilizing | 1.0 | D | 0.673 | neutral | None | None | None | None | I |
| N/P | 0.56 | ambiguous | 0.505 | ambiguous | -0.262 | Destabilizing | 1.0 | D | 0.736 | prob.delet. | None | None | None | None | I |
| N/Q | 0.6392 | likely_pathogenic | 0.5664 | pathogenic | -0.441 | Destabilizing | 1.0 | D | 0.724 | prob.delet. | None | None | None | None | I |
| N/R | 0.7181 | likely_pathogenic | 0.6212 | pathogenic | 0.199 | Stabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | I |
| N/S | 0.1065 | likely_benign | 0.0948 | benign | -0.222 | Destabilizing | 0.999 | D | 0.621 | neutral | N | 0.499682397 | None | None | I |
| N/T | 0.189 | likely_benign | 0.1539 | benign | -0.092 | Destabilizing | 0.999 | D | 0.724 | prob.delet. | N | 0.481136709 | None | None | I |
| N/V | 0.2818 | likely_benign | 0.2335 | benign | -0.262 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | None | None | None | None | I |
| N/W | 0.9201 | likely_pathogenic | 0.8892 | pathogenic | -0.734 | Destabilizing | 1.0 | D | 0.727 | prob.delet. | None | None | None | None | I |
| N/Y | 0.3299 | likely_benign | 0.2721 | benign | -0.497 | Destabilizing | 1.0 | D | 0.711 | prob.delet. | N | 0.499387768 | 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.