Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33045 | 99358;99359;99360 | chr2:178538696;178538695;178538694 | chr2:179403423;179403422;179403421 |
| N2AB | 31404 | 94435;94436;94437 | chr2:178538696;178538695;178538694 | chr2:179403423;179403422;179403421 |
| N2A | 30477 | 91654;91655;91656 | chr2:178538696;178538695;178538694 | chr2:179403423;179403422;179403421 |
| N2B | 23980 | 72163;72164;72165 | chr2:178538696;178538695;178538694 | chr2:179403423;179403422;179403421 |
| Novex-1 | 24105 | 72538;72539;72540 | chr2:178538696;178538695;178538694 | chr2:179403423;179403422;179403421 |
| Novex-2 | 24172 | 72739;72740;72741 | chr2:178538696;178538695;178538694 | chr2:179403423;179403422;179403421 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/G | rs770903683  |
-2.875 | 1.0 | D | 0.637 | 0.664 | 0.392395365052 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| W/G | rs770903683 |
-2.875 | 1.0 | D | 0.637 | 0.664 | 0.392395365052 | gnomAD-4.0.0 | 1.59134E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43275E-05 | 0 |
| W/L | rs1235163894 |
None | 1.0 | N | 0.637 | 0.51 | 0.615182085354 | gnomAD-4.0.0 | 1.59134E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.88324E-05 | 0 | 0 | 0 | 0 |
| W/R | rs770903683 |
-0.992 | 1.0 | D | 0.739 | 0.65 | 0.759772741719 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.56E-05 | None | 0 | None | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/A | 0.9957 | likely_pathogenic | 0.9973 | pathogenic | -3.635 | Highly Destabilizing | 1.0 | D | 0.732 | prob.delet. | None | None | None | None | N |
| W/C | 0.9975 | likely_pathogenic | 0.9985 | pathogenic | -1.725 | Destabilizing | 1.0 | D | 0.697 | prob.neutral | N | 0.510019603 | None | None | N |
| W/D | 0.9993 | likely_pathogenic | 0.9994 | pathogenic | -2.728 | Highly Destabilizing | 1.0 | D | 0.739 | prob.delet. | None | None | None | None | N |
| W/E | 0.9993 | likely_pathogenic | 0.9994 | pathogenic | -2.66 | Highly Destabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | N |
| W/F | 0.7669 | likely_pathogenic | 0.7996 | pathogenic | -2.32 | Highly Destabilizing | 1.0 | D | 0.604 | neutral | None | None | None | None | N |
| W/G | 0.988 | likely_pathogenic | 0.9915 | pathogenic | -3.818 | Highly Destabilizing | 1.0 | D | 0.637 | neutral | D | 0.533288419 | None | None | N |
| W/H | 0.9977 | likely_pathogenic | 0.9982 | pathogenic | -2.089 | Highly Destabilizing | 1.0 | D | 0.69 | prob.neutral | None | None | None | None | N |
| W/I | 0.9942 | likely_pathogenic | 0.9959 | pathogenic | -2.925 | Highly Destabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | N |
| W/K | 0.9997 | likely_pathogenic | 0.9998 | pathogenic | -2.111 | Highly Destabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | N |
| W/L | 0.9772 | likely_pathogenic | 0.9852 | pathogenic | -2.925 | Highly Destabilizing | 1.0 | D | 0.637 | neutral | N | 0.517435435 | None | None | N |
| W/M | 0.9957 | likely_pathogenic | 0.9971 | pathogenic | -2.278 | Highly Destabilizing | 1.0 | D | 0.677 | prob.neutral | None | None | None | None | N |
| W/N | 0.9989 | likely_pathogenic | 0.9992 | pathogenic | -2.451 | Highly Destabilizing | 1.0 | D | 0.733 | prob.delet. | None | None | None | None | N |
| W/P | 0.9964 | likely_pathogenic | 0.998 | pathogenic | -3.185 | Highly Destabilizing | 1.0 | D | 0.731 | prob.delet. | None | None | None | None | N |
| W/Q | 0.9997 | likely_pathogenic | 0.9997 | pathogenic | -2.521 | Highly Destabilizing | 1.0 | D | 0.723 | prob.delet. | None | None | None | None | N |
| W/R | 0.9994 | likely_pathogenic | 0.9995 | pathogenic | -1.372 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | D | 0.551139184 | None | None | N |
| W/S | 0.994 | likely_pathogenic | 0.9961 | pathogenic | -2.835 | Highly Destabilizing | 1.0 | D | 0.734 | prob.delet. | N | 0.521171645 | None | None | N |
| W/T | 0.9967 | likely_pathogenic | 0.9978 | pathogenic | -2.719 | Highly Destabilizing | 1.0 | D | 0.703 | prob.neutral | None | None | None | None | N |
| W/V | 0.9915 | likely_pathogenic | 0.9946 | pathogenic | -3.185 | Highly Destabilizing | 1.0 | D | 0.731 | prob.delet. | None | None | None | None | N |
| W/Y | 0.9347 | likely_pathogenic | 0.9475 | pathogenic | -2.087 | Highly Destabilizing | 1.0 | D | 0.568 | 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.