Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26528 | 79807;79808;79809 | chr2:178566550;178566549;178566548 | chr2:179431277;179431276;179431275 |
| N2AB | 24887 | 74884;74885;74886 | chr2:178566550;178566549;178566548 | chr2:179431277;179431276;179431275 |
| N2A | 23960 | 72103;72104;72105 | chr2:178566550;178566549;178566548 | chr2:179431277;179431276;179431275 |
| N2B | 17463 | 52612;52613;52614 | chr2:178566550;178566549;178566548 | chr2:179431277;179431276;179431275 |
| Novex-1 | 17588 | 52987;52988;52989 | chr2:178566550;178566549;178566548 | chr2:179431277;179431276;179431275 |
| Novex-2 | 17655 | 53188;53189;53190 | chr2:178566550;178566549;178566548 | chr2:179431277;179431276;179431275 |
| 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 | rs775724652  |
-0.207 | 0.994 | N | 0.447 | 0.322 | 0.312001716656 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 3.31785E-04 |
| K/E | rs775724652 |
-0.207 | 0.994 | N | 0.447 | 0.322 | 0.312001716656 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 0 | 1.3113E-04 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 4.78011E-04 |
| K/E | rs775724652 |
-0.207 | 0.994 | N | 0.447 | 0.322 | 0.312001716656 | gnomAD-4.0.0 | 3.09947E-06 | None | None | None | None | N | None | 0 | 3.335E-05 | None | 0 | 0 | None | 0 | 0 | 8.47672E-07 | 0 | 3.20277E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/A | 0.3253 | likely_benign | 0.3121 | benign | -0.897 | Destabilizing | 0.992 | D | 0.461 | neutral | None | None | None | None | N |
| K/C | 0.6585 | likely_pathogenic | 0.6496 | pathogenic | -0.953 | Destabilizing | 1.0 | D | 0.742 | deleterious | None | None | None | None | N |
| K/D | 0.5781 | likely_pathogenic | 0.5737 | pathogenic | -1.197 | Destabilizing | 0.999 | D | 0.647 | neutral | None | None | None | None | N |
| K/E | 0.1632 | likely_benign | 0.1539 | benign | -1.016 | Destabilizing | 0.994 | D | 0.447 | neutral | N | 0.420797539 | None | None | N |
| K/F | 0.7907 | likely_pathogenic | 0.7828 | pathogenic | -0.377 | Destabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | N |
| K/G | 0.4607 | ambiguous | 0.4582 | ambiguous | -1.334 | Destabilizing | 0.999 | D | 0.611 | neutral | None | None | None | None | N |
| K/H | 0.3428 | ambiguous | 0.3329 | benign | -1.776 | Destabilizing | 1.0 | D | 0.702 | prob.neutral | None | None | None | None | N |
| K/I | 0.3682 | ambiguous | 0.3506 | ambiguous | 0.284 | Stabilizing | 0.997 | D | 0.779 | deleterious | N | 0.510824898 | None | None | N |
| K/L | 0.2859 | likely_benign | 0.2725 | benign | 0.284 | Stabilizing | 0.992 | D | 0.569 | neutral | None | None | None | None | N |
| K/M | 0.2308 | likely_benign | 0.2219 | benign | 0.203 | Stabilizing | 1.0 | D | 0.698 | prob.neutral | None | None | None | None | N |
| K/N | 0.4384 | ambiguous | 0.4175 | ambiguous | -1.314 | Destabilizing | 0.998 | D | 0.615 | neutral | D | 0.523887408 | None | None | N |
| K/P | 0.4841 | ambiguous | 0.4916 | ambiguous | -0.082 | Destabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | N |
| K/Q | 0.138 | likely_benign | 0.1348 | benign | -1.208 | Destabilizing | 0.999 | D | 0.664 | neutral | N | 0.495199297 | None | None | N |
| K/R | 0.0859 | likely_benign | 0.0855 | benign | -1.176 | Destabilizing | 0.994 | D | 0.479 | neutral | N | 0.464609818 | None | None | N |
| K/S | 0.4415 | ambiguous | 0.4295 | ambiguous | -1.814 | Destabilizing | 0.983 | D | 0.447 | neutral | None | None | None | None | N |
| K/T | 0.2276 | likely_benign | 0.2221 | benign | -1.41 | Destabilizing | 0.543 | D | 0.317 | neutral | N | 0.490678912 | None | None | N |
| K/V | 0.3131 | likely_benign | 0.303 | benign | -0.082 | Destabilizing | 0.998 | D | 0.607 | neutral | None | None | None | None | N |
| K/W | 0.8072 | likely_pathogenic | 0.8042 | pathogenic | -0.409 | Destabilizing | 1.0 | D | 0.731 | prob.delet. | None | None | None | None | N |
| K/Y | 0.6833 | likely_pathogenic | 0.677 | pathogenic | -0.072 | Destabilizing | 1.0 | D | 0.734 | 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.