Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27074 | 81445;81446;81447 | chr2:178564912;178564911;178564910 | chr2:179429639;179429638;179429637 |
| N2AB | 25433 | 76522;76523;76524 | chr2:178564912;178564911;178564910 | chr2:179429639;179429638;179429637 |
| N2A | 24506 | 73741;73742;73743 | chr2:178564912;178564911;178564910 | chr2:179429639;179429638;179429637 |
| N2B | 18009 | 54250;54251;54252 | chr2:178564912;178564911;178564910 | chr2:179429639;179429638;179429637 |
| Novex-1 | 18134 | 54625;54626;54627 | chr2:178564912;178564911;178564910 | chr2:179429639;179429638;179429637 |
| Novex-2 | 18201 | 54826;54827;54828 | chr2:178564912;178564911;178564910 | chr2:179429639;179429638;179429637 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/R | rs769814202  |
-0.726 | 0.942 | N | 0.685 | 0.369 | 0.484763619824 | gnomAD-2.1.1 | 2.02E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.80175E-04 | None | 0 | None | 0 | 0 | 0 |
| G/R | rs769814202 |
-0.726 | 0.942 | N | 0.685 | 0.369 | 0.484763619824 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 3.86548E-04 | None | 0 | 0 | 0 | 0 | 0 |
| G/R | rs769814202 |
-0.726 | 0.942 | N | 0.685 | 0.369 | 0.484763619824 | gnomAD-4.0.0 | 2.41896E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 8.7007E-04 | None | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.3862 | ambiguous | 0.3468 | ambiguous | -0.819 | Destabilizing | 0.025 | N | 0.294 | neutral | N | 0.480052064 | None | None | N |
| G/C | 0.6192 | likely_pathogenic | 0.5878 | pathogenic | -1.266 | Destabilizing | 0.998 | D | 0.715 | prob.delet. | None | None | None | None | N |
| G/D | 0.8995 | likely_pathogenic | 0.8803 | pathogenic | -1.981 | Destabilizing | 0.956 | D | 0.673 | neutral | None | None | None | None | N |
| G/E | 0.8785 | likely_pathogenic | 0.8597 | pathogenic | -2.036 | Highly Destabilizing | 0.942 | D | 0.649 | neutral | N | 0.50216879 | None | None | N |
| G/F | 0.9013 | likely_pathogenic | 0.8984 | pathogenic | -1.249 | Destabilizing | 0.978 | D | 0.721 | prob.delet. | None | None | None | None | N |
| G/H | 0.9296 | likely_pathogenic | 0.9166 | pathogenic | -1.319 | Destabilizing | 0.998 | D | 0.655 | neutral | None | None | None | None | N |
| G/I | 0.8218 | likely_pathogenic | 0.8122 | pathogenic | -0.485 | Destabilizing | 0.915 | D | 0.679 | prob.neutral | None | None | None | None | N |
| G/K | 0.9472 | likely_pathogenic | 0.939 | pathogenic | -1.288 | Destabilizing | 0.956 | D | 0.649 | neutral | None | None | None | None | N |
| G/L | 0.8243 | likely_pathogenic | 0.7968 | pathogenic | -0.485 | Destabilizing | 0.754 | D | 0.692 | prob.neutral | None | None | None | None | N |
| G/M | 0.8801 | likely_pathogenic | 0.8614 | pathogenic | -0.475 | Destabilizing | 0.994 | D | 0.717 | prob.delet. | None | None | None | None | N |
| G/N | 0.8506 | likely_pathogenic | 0.8313 | pathogenic | -1.125 | Destabilizing | 0.956 | D | 0.706 | prob.neutral | None | None | None | None | N |
| G/P | 0.9891 | likely_pathogenic | 0.9883 | pathogenic | -0.559 | Destabilizing | 0.978 | D | 0.681 | prob.neutral | None | None | None | None | N |
| G/Q | 0.8854 | likely_pathogenic | 0.8639 | pathogenic | -1.377 | Destabilizing | 0.956 | D | 0.677 | prob.neutral | None | None | None | None | N |
| G/R | 0.8946 | likely_pathogenic | 0.8821 | pathogenic | -0.945 | Destabilizing | 0.942 | D | 0.685 | prob.neutral | N | 0.510526582 | None | None | N |
| G/S | 0.2729 | likely_benign | 0.2399 | benign | -1.297 | Destabilizing | 0.076 | N | 0.471 | neutral | None | None | None | None | N |
| G/T | 0.6442 | likely_pathogenic | 0.6111 | pathogenic | -1.289 | Destabilizing | 0.754 | D | 0.665 | neutral | None | None | None | None | N |
| G/V | 0.7439 | likely_pathogenic | 0.732 | pathogenic | -0.559 | Destabilizing | 0.125 | N | 0.544 | neutral | D | 0.522554451 | None | None | N |
| G/W | 0.8908 | likely_pathogenic | 0.8949 | pathogenic | -1.576 | Destabilizing | 0.998 | D | 0.683 | prob.neutral | None | None | None | None | N |
| G/Y | 0.8746 | likely_pathogenic | 0.8689 | pathogenic | -1.168 | Destabilizing | 0.993 | D | 0.721 | 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.