Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28619 | 86080;86081;86082 | chr2:178560277;178560276;178560275 | chr2:179425004;179425003;179425002 |
| N2AB | 26978 | 81157;81158;81159 | chr2:178560277;178560276;178560275 | chr2:179425004;179425003;179425002 |
| N2A | 26051 | 78376;78377;78378 | chr2:178560277;178560276;178560275 | chr2:179425004;179425003;179425002 |
| N2B | 19554 | 58885;58886;58887 | chr2:178560277;178560276;178560275 | chr2:179425004;179425003;179425002 |
| Novex-1 | 19679 | 59260;59261;59262 | chr2:178560277;178560276;178560275 | chr2:179425004;179425003;179425002 |
| Novex-2 | 19746 | 59461;59462;59463 | chr2:178560277;178560276;178560275 | chr2:179425004;179425003;179425002 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/S | rs74853087  |
None | 0.078 | N | 0.253 | 0.26 | 0.446813524615 | gnomAD-4.0.0 | 2.40065E-06 | None | None | None | None | N | None | 6.33473E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.66327E-05 |
| C/Y | None | None | 0.979 | N | 0.498 | 0.31 | 0.671617007207 | gnomAD-4.0.0 | 3.60097E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.9375E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/A | 0.337 | likely_benign | 0.2925 | benign | -1.772 | Destabilizing | 0.373 | N | 0.4 | neutral | None | None | None | None | N |
| C/D | 0.692 | likely_pathogenic | 0.7067 | pathogenic | -0.654 | Destabilizing | 0.59 | D | 0.481 | neutral | None | None | None | None | N |
| C/E | 0.7962 | likely_pathogenic | 0.8199 | pathogenic | -0.528 | Destabilizing | 0.91 | D | 0.495 | neutral | None | None | None | None | N |
| C/F | 0.1917 | likely_benign | 0.1927 | benign | -1.078 | Destabilizing | 0.979 | D | 0.497 | neutral | N | 0.504530857 | None | None | N |
| C/G | 0.1929 | likely_benign | 0.1593 | benign | -2.093 | Highly Destabilizing | 0.521 | D | 0.465 | neutral | N | 0.449408293 | None | None | N |
| C/H | 0.4121 | ambiguous | 0.4536 | ambiguous | -2.095 | Highly Destabilizing | 0.987 | D | 0.533 | neutral | None | None | None | None | N |
| C/I | 0.4904 | ambiguous | 0.4703 | ambiguous | -0.937 | Destabilizing | 0.953 | D | 0.466 | neutral | None | None | None | None | N |
| C/K | 0.7778 | likely_pathogenic | 0.8247 | pathogenic | -1.151 | Destabilizing | 0.742 | D | 0.485 | neutral | None | None | None | None | N |
| C/L | 0.4017 | ambiguous | 0.4059 | ambiguous | -0.937 | Destabilizing | 0.854 | D | 0.422 | neutral | None | None | None | None | N |
| C/M | 0.4854 | ambiguous | 0.4773 | ambiguous | -0.029 | Destabilizing | 0.996 | D | 0.463 | neutral | None | None | None | None | N |
| C/N | 0.3373 | likely_benign | 0.3155 | benign | -1.224 | Destabilizing | 0.009 | N | 0.343 | neutral | None | None | None | None | N |
| C/P | 0.9792 | likely_pathogenic | 0.969 | pathogenic | -1.19 | Destabilizing | 0.984 | D | 0.535 | neutral | None | None | None | None | N |
| C/Q | 0.5352 | ambiguous | 0.5672 | pathogenic | -1.085 | Destabilizing | 0.91 | D | 0.536 | neutral | None | None | None | None | N |
| C/R | 0.4648 | ambiguous | 0.5412 | ambiguous | -1.044 | Destabilizing | 0.884 | D | 0.518 | neutral | N | 0.413754137 | None | None | N |
| C/S | 0.1993 | likely_benign | 0.1702 | benign | -1.746 | Destabilizing | 0.078 | N | 0.253 | neutral | N | 0.389858557 | None | None | N |
| C/T | 0.3732 | ambiguous | 0.3289 | benign | -1.439 | Destabilizing | 0.742 | D | 0.419 | neutral | None | None | None | None | N |
| C/V | 0.4033 | ambiguous | 0.3837 | ambiguous | -1.19 | Destabilizing | 0.854 | D | 0.454 | neutral | None | None | None | None | N |
| C/W | 0.4503 | ambiguous | 0.4669 | ambiguous | -1.131 | Destabilizing | 0.994 | D | 0.525 | neutral | N | 0.475074741 | None | None | N |
| C/Y | 0.2645 | likely_benign | 0.2816 | benign | -1.1 | Destabilizing | 0.979 | D | 0.498 | neutral | N | 0.515305211 | 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.