Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19593 | 59002;59003;59004 | chr2:178593431;178593430;178593429 | chr2:179458158;179458157;179458156 |
| N2AB | 17952 | 54079;54080;54081 | chr2:178593431;178593430;178593429 | chr2:179458158;179458157;179458156 |
| N2A | 17025 | 51298;51299;51300 | chr2:178593431;178593430;178593429 | chr2:179458158;179458157;179458156 |
| N2B | 10528 | 31807;31808;31809 | chr2:178593431;178593430;178593429 | chr2:179458158;179458157;179458156 |
| Novex-1 | 10653 | 32182;32183;32184 | chr2:178593431;178593430;178593429 | chr2:179458158;179458157;179458156 |
| Novex-2 | 10720 | 32383;32384;32385 | chr2:178593431;178593430;178593429 | chr2:179458158;179458157;179458156 |
| 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 | rs1465047978  |
None | 0.989 | N | 0.534 | 0.264 | 0.270889551736 | gnomAD-4.0.0 | 3.42245E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.49815E-06 | 0 | 0 |
| K/N | None | None | 0.989 | N | 0.571 | 0.197 | 0.241078983079 | 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 | 0.4547 | ambiguous | 0.4224 | ambiguous | -0.226 | Destabilizing | 0.996 | D | 0.567 | neutral | None | None | None | None | N |
| K/C | 0.7324 | likely_pathogenic | 0.7096 | pathogenic | -0.302 | Destabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | N |
| K/D | 0.8884 | likely_pathogenic | 0.8717 | pathogenic | -0.423 | Destabilizing | 0.999 | D | 0.599 | neutral | None | None | None | None | N |
| K/E | 0.4585 | ambiguous | 0.4011 | ambiguous | -0.411 | Destabilizing | 0.989 | D | 0.534 | neutral | N | 0.511147398 | None | None | N |
| K/F | 0.9459 | likely_pathogenic | 0.941 | pathogenic | -0.543 | Destabilizing | 0.999 | D | 0.745 | deleterious | None | None | None | None | N |
| K/G | 0.5142 | ambiguous | 0.4698 | ambiguous | -0.467 | Destabilizing | 0.996 | D | 0.604 | neutral | None | None | None | None | N |
| K/H | 0.4672 | ambiguous | 0.4685 | ambiguous | -0.991 | Destabilizing | 0.269 | N | 0.372 | neutral | None | None | None | None | N |
| K/I | 0.8287 | likely_pathogenic | 0.7981 | pathogenic | 0.34 | Stabilizing | 0.999 | D | 0.749 | deleterious | N | 0.487435578 | None | None | N |
| K/L | 0.7724 | likely_pathogenic | 0.7306 | pathogenic | 0.34 | Stabilizing | 0.999 | D | 0.591 | neutral | None | None | None | None | N |
| K/M | 0.5633 | ambiguous | 0.5075 | ambiguous | 0.532 | Stabilizing | 1.0 | D | 0.608 | neutral | None | None | None | None | N |
| K/N | 0.7441 | likely_pathogenic | 0.7086 | pathogenic | -0.047 | Destabilizing | 0.989 | D | 0.571 | neutral | N | 0.514862493 | None | None | N |
| K/P | 0.9078 | likely_pathogenic | 0.8902 | pathogenic | 0.18 | Stabilizing | 1.0 | D | 0.636 | neutral | None | None | None | None | N |
| K/Q | 0.2446 | likely_benign | 0.2289 | benign | -0.376 | Destabilizing | 0.998 | D | 0.603 | neutral | N | 0.471938216 | None | None | N |
| K/R | 0.0791 | likely_benign | 0.0729 | benign | -0.133 | Destabilizing | 0.989 | D | 0.496 | neutral | N | 0.487811965 | None | None | N |
| K/S | 0.5579 | ambiguous | 0.5079 | ambiguous | -0.566 | Destabilizing | 0.996 | D | 0.535 | neutral | None | None | None | None | N |
| K/T | 0.5251 | ambiguous | 0.4717 | ambiguous | -0.398 | Destabilizing | 0.999 | D | 0.593 | neutral | N | 0.479949932 | None | None | N |
| K/V | 0.7283 | likely_pathogenic | 0.6885 | pathogenic | 0.18 | Stabilizing | 1.0 | D | 0.676 | prob.neutral | None | None | None | None | N |
| K/W | 0.9166 | likely_pathogenic | 0.9015 | pathogenic | -0.477 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | N |
| K/Y | 0.8549 | likely_pathogenic | 0.8445 | pathogenic | -0.077 | Destabilizing | 0.998 | D | 0.704 | prob.neutral | 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.