Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 35902 | 107929;107930;107931 | chr2:178527284;178527283;178527282 | chr2:179392011;179392010;179392009 |
| N2AB | 34261 | 103006;103007;103008 | chr2:178527284;178527283;178527282 | chr2:179392011;179392010;179392009 |
| N2A | 33334 | 100225;100226;100227 | chr2:178527284;178527283;178527282 | chr2:179392011;179392010;179392009 |
| N2B | 26837 | 80734;80735;80736 | chr2:178527284;178527283;178527282 | chr2:179392011;179392010;179392009 |
| Novex-1 | 26962 | 81109;81110;81111 | chr2:178527284;178527283;178527282 | chr2:179392011;179392010;179392009 |
| Novex-2 | 27029 | 81310;81311;81312 | chr2:178527284;178527283;178527282 | chr2:179392011;179392010;179392009 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/P | None | None | 0.999 | N | 0.745 | 0.476 | 0.754892831303 | gnomAD-4.0.0 | 6.90771E-07 | None | None | None | -1.071(OBSL1) -0.652(OBSCN) | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.06165E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/A | 0.9339 | likely_pathogenic | 0.9251 | pathogenic | -0.458 | Destabilizing | 0.683 | D | 0.345 | neutral | None | None | None | -0.996(OBSL1) -0.702(OBSCN) | N |
| L/C | 0.9697 | likely_pathogenic | 0.9697 | pathogenic | -0.597 | Destabilizing | 1.0 | D | 0.695 | prob.neutral | None | None | None | -0.346(OBSL1) -0.01(OBSCN) | N |
| L/D | 0.9977 | likely_pathogenic | 0.9966 | pathogenic | -0.185 | Destabilizing | 0.999 | D | 0.744 | deleterious | None | None | None | 0.517(OBSL1) -0.536(OBSCN) | N |
| L/E | 0.9832 | likely_pathogenic | 0.977 | pathogenic | -0.271 | Destabilizing | 0.999 | D | 0.731 | prob.delet. | None | None | None | 0.461(OBSL1) -0.539(OBSCN) | N |
| L/F | 0.6529 | likely_pathogenic | 0.6239 | pathogenic | -0.548 | Destabilizing | 1.0 | D | 0.707 | prob.neutral | N | 0.493943796 | None | -0.593(OBSL1) 0.188(OBSCN) | N |
| L/G | 0.9901 | likely_pathogenic | 0.9877 | pathogenic | -0.604 | Destabilizing | 0.996 | D | 0.697 | prob.neutral | None | None | None | -0.959(OBSL1) -0.727(OBSCN) | N |
| L/H | 0.964 | likely_pathogenic | 0.9541 | pathogenic | -0.026 | Destabilizing | 1.0 | D | 0.695 | prob.neutral | N | 0.498253537 | None | -0.614(OBSL1) 0.039(OBSCN) | N |
| L/I | 0.2954 | likely_benign | 0.2843 | benign | -0.193 | Destabilizing | 0.996 | D | 0.521 | neutral | N | 0.488612547 | None | -1.107(OBSL1) -0.629(OBSCN) | N |
| L/K | 0.9423 | likely_pathogenic | 0.9252 | pathogenic | -0.313 | Destabilizing | 0.998 | D | 0.728 | prob.delet. | None | None | None | -0.94(OBSL1) -0.63(OBSCN) | N |
| L/M | 0.4173 | ambiguous | 0.3998 | ambiguous | -0.421 | Destabilizing | 1.0 | D | 0.677 | prob.neutral | None | None | None | -1.075(OBSL1) -0.181(OBSCN) | N |
| L/N | 0.9859 | likely_pathogenic | 0.9817 | pathogenic | -0.101 | Destabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | -0.379(OBSL1) -0.244(OBSCN) | N |
| L/P | 0.9703 | likely_pathogenic | 0.9544 | pathogenic | -0.25 | Destabilizing | 0.999 | D | 0.745 | deleterious | N | 0.484918881 | None | -1.071(OBSL1) -0.652(OBSCN) | N |
| L/Q | 0.9394 | likely_pathogenic | 0.9221 | pathogenic | -0.285 | Destabilizing | 1.0 | D | 0.729 | prob.delet. | None | None | None | -0.245(OBSL1) -0.236(OBSCN) | N |
| L/R | 0.9246 | likely_pathogenic | 0.9024 | pathogenic | 0.142 | Stabilizing | 0.999 | D | 0.714 | prob.delet. | N | 0.473317807 | None | -1.193(OBSL1) -0.65(OBSCN) | N |
| L/S | 0.9776 | likely_pathogenic | 0.9722 | pathogenic | -0.496 | Destabilizing | 0.996 | D | 0.654 | neutral | None | None | None | -0.332(OBSL1) -0.227(OBSCN) | N |
| L/T | 0.9414 | likely_pathogenic | 0.9333 | pathogenic | -0.475 | Destabilizing | 0.998 | D | 0.709 | prob.delet. | None | None | None | -0.407(OBSL1) -0.238(OBSCN) | N |
| L/V | 0.4004 | ambiguous | 0.3907 | ambiguous | -0.25 | Destabilizing | 0.992 | D | 0.528 | neutral | N | 0.489940698 | None | -1.071(OBSL1) -0.652(OBSCN) | N |
| L/W | 0.9326 | likely_pathogenic | 0.9168 | pathogenic | -0.601 | Destabilizing | 1.0 | D | 0.692 | prob.neutral | None | None | None | -0.739(OBSL1) 0.197(OBSCN) | N |
| L/Y | 0.9541 | likely_pathogenic | 0.9486 | pathogenic | -0.336 | Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | -0.767(OBSL1) 0.22(OBSCN) | 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.