Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21673 | 65242;65243;65244 | chr2:178584534;178584533;178584532 | chr2:179449261;179449260;179449259 |
| N2AB | 20032 | 60319;60320;60321 | chr2:178584534;178584533;178584532 | chr2:179449261;179449260;179449259 |
| N2A | 19105 | 57538;57539;57540 | chr2:178584534;178584533;178584532 | chr2:179449261;179449260;179449259 |
| N2B | 12608 | 38047;38048;38049 | chr2:178584534;178584533;178584532 | chr2:179449261;179449260;179449259 |
| Novex-1 | 12733 | 38422;38423;38424 | chr2:178584534;178584533;178584532 | chr2:179449261;179449260;179449259 |
| Novex-2 | 12800 | 38623;38624;38625 | chr2:178584534;178584533;178584532 | chr2:179449261;179449260;179449259 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/E | rs757115467  |
-0.204 | 0.999 | N | 0.581 | 0.386 | 0.345859378078 | gnomAD-2.1.1 | 8.06E-06 | None | None | None | None | N | None | 1.29282E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| K/E | rs757115467 |
-0.204 | 0.999 | N | 0.581 | 0.386 | 0.345859378078 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| K/E | rs757115467 |
-0.204 | 0.999 | N | 0.581 | 0.386 | 0.345859378078 | gnomAD-4.0.0 | 6.2E-06 | None | None | None | None | N | None | 6.67806E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 3.39165E-06 | 0 | 1.6022E-05 |
| K/M | None | None | 1.0 | N | 0.667 | 0.537 | 0.479133204078 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/A | 0.5523 | ambiguous | 0.5645 | pathogenic | -0.25 | Destabilizing | 0.999 | D | 0.627 | neutral | None | None | None | None | N |
| K/C | 0.8291 | likely_pathogenic | 0.8319 | pathogenic | -0.215 | Destabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | None | N |
| K/D | 0.8495 | likely_pathogenic | 0.8438 | pathogenic | -0.443 | Destabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | None | N |
| K/E | 0.4174 | ambiguous | 0.4261 | ambiguous | -0.399 | Destabilizing | 0.999 | D | 0.581 | neutral | N | 0.511416757 | None | None | N |
| K/F | 0.9636 | likely_pathogenic | 0.9614 | pathogenic | -0.24 | Destabilizing | 1.0 | D | 0.725 | prob.delet. | None | None | None | None | N |
| K/G | 0.577 | likely_pathogenic | 0.587 | pathogenic | -0.555 | Destabilizing | 1.0 | D | 0.695 | prob.neutral | None | None | None | None | N |
| K/H | 0.5296 | ambiguous | 0.5191 | ambiguous | -1.059 | Destabilizing | 1.0 | D | 0.672 | neutral | None | None | None | None | N |
| K/I | 0.8227 | likely_pathogenic | 0.82 | pathogenic | 0.51 | Stabilizing | 1.0 | D | 0.753 | deleterious | None | None | None | None | N |
| K/L | 0.8053 | likely_pathogenic | 0.7853 | pathogenic | 0.51 | Stabilizing | 1.0 | D | 0.695 | prob.neutral | None | None | None | None | N |
| K/M | 0.6231 | likely_pathogenic | 0.6069 | pathogenic | 0.575 | Stabilizing | 1.0 | D | 0.667 | neutral | N | 0.503729407 | None | None | N |
| K/N | 0.7574 | likely_pathogenic | 0.759 | pathogenic | -0.193 | Destabilizing | 1.0 | D | 0.749 | deleterious | N | 0.46467006 | None | None | N |
| K/P | 0.7948 | likely_pathogenic | 0.7973 | pathogenic | 0.287 | Stabilizing | 1.0 | D | 0.707 | prob.neutral | None | None | None | None | N |
| K/Q | 0.2413 | likely_benign | 0.2527 | benign | -0.407 | Destabilizing | 1.0 | D | 0.738 | prob.delet. | N | 0.476217403 | None | None | N |
| K/R | 0.0864 | likely_benign | 0.0865 | benign | -0.431 | Destabilizing | 0.999 | D | 0.533 | neutral | N | 0.487542606 | None | None | N |
| K/S | 0.634 | likely_pathogenic | 0.6532 | pathogenic | -0.684 | Destabilizing | 0.999 | D | 0.674 | neutral | None | None | None | None | N |
| K/T | 0.5056 | ambiguous | 0.4822 | ambiguous | -0.469 | Destabilizing | 1.0 | D | 0.728 | prob.delet. | N | 0.514977137 | None | None | N |
| K/V | 0.7552 | likely_pathogenic | 0.7454 | pathogenic | 0.287 | Stabilizing | 1.0 | D | 0.719 | prob.delet. | None | None | None | None | N |
| K/W | 0.9229 | likely_pathogenic | 0.9107 | pathogenic | -0.179 | Destabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | N |
| K/Y | 0.8797 | likely_pathogenic | 0.8751 | pathogenic | 0.153 | Stabilizing | 1.0 | D | 0.733 | 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.