Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25811 | 77656;77657;77658 | chr2:178568701;178568700;178568699 | chr2:179433428;179433427;179433426 |
| N2AB | 24170 | 72733;72734;72735 | chr2:178568701;178568700;178568699 | chr2:179433428;179433427;179433426 |
| N2A | 23243 | 69952;69953;69954 | chr2:178568701;178568700;178568699 | chr2:179433428;179433427;179433426 |
| N2B | 16746 | 50461;50462;50463 | chr2:178568701;178568700;178568699 | chr2:179433428;179433427;179433426 |
| Novex-1 | 16871 | 50836;50837;50838 | chr2:178568701;178568700;178568699 | chr2:179433428;179433427;179433426 |
| Novex-2 | 16938 | 51037;51038;51039 | chr2:178568701;178568700;178568699 | chr2:179433428;179433427;179433426 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/I | rs1295057391  |
-0.418 | 0.025 | N | 0.295 | 0.118 | 0.242825505644 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 1.66667E-04 |
| V/I | rs1295057391 |
-0.418 | 0.025 | N | 0.295 | 0.118 | 0.242825505644 | gnomAD-4.0.0 | 4.77672E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.78025E-05 | None | 0 | 0 | 0 | 1.43336E-05 | 3.02572E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.112 | likely_benign | 0.1238 | benign | -0.906 | Destabilizing | 0.099 | N | 0.299 | neutral | N | 0.411686906 | None | None | N |
| V/C | 0.7666 | likely_pathogenic | 0.7987 | pathogenic | -0.55 | Destabilizing | 0.999 | D | 0.488 | neutral | None | None | None | None | N |
| V/D | 0.6188 | likely_pathogenic | 0.7029 | pathogenic | -0.829 | Destabilizing | 0.983 | D | 0.685 | prob.neutral | N | 0.457808936 | None | None | N |
| V/E | 0.4417 | ambiguous | 0.5026 | ambiguous | -0.937 | Destabilizing | 0.987 | D | 0.581 | neutral | None | None | None | None | N |
| V/F | 0.3339 | likely_benign | 0.4003 | ambiguous | -1.073 | Destabilizing | 0.967 | D | 0.447 | neutral | N | 0.483154893 | None | None | N |
| V/G | 0.3107 | likely_benign | 0.3607 | ambiguous | -1.091 | Destabilizing | 0.967 | D | 0.602 | neutral | N | 0.489991748 | None | None | N |
| V/H | 0.7192 | likely_pathogenic | 0.7859 | pathogenic | -0.702 | Destabilizing | 0.999 | D | 0.697 | prob.neutral | None | None | None | None | N |
| V/I | 0.0964 | likely_benign | 0.0974 | benign | -0.551 | Destabilizing | 0.025 | N | 0.295 | neutral | N | 0.501692834 | None | None | N |
| V/K | 0.4841 | ambiguous | 0.5665 | pathogenic | -0.722 | Destabilizing | 0.987 | D | 0.581 | neutral | None | None | None | None | N |
| V/L | 0.3525 | ambiguous | 0.3953 | ambiguous | -0.551 | Destabilizing | 0.369 | N | 0.425 | neutral | N | 0.493726712 | None | None | N |
| V/M | 0.2167 | likely_benign | 0.2375 | benign | -0.296 | Destabilizing | 0.975 | D | 0.441 | neutral | None | None | None | None | N |
| V/N | 0.4148 | ambiguous | 0.4641 | ambiguous | -0.334 | Destabilizing | 0.996 | D | 0.688 | prob.neutral | None | None | None | None | N |
| V/P | 0.7105 | likely_pathogenic | 0.758 | pathogenic | -0.634 | Destabilizing | 0.987 | D | 0.597 | neutral | None | None | None | None | N |
| V/Q | 0.4685 | ambiguous | 0.5304 | ambiguous | -0.643 | Destabilizing | 0.996 | D | 0.594 | neutral | None | None | None | None | N |
| V/R | 0.4328 | ambiguous | 0.5109 | ambiguous | -0.119 | Destabilizing | 0.987 | D | 0.693 | prob.neutral | None | None | None | None | N |
| V/S | 0.2182 | likely_benign | 0.2466 | benign | -0.704 | Destabilizing | 0.95 | D | 0.497 | neutral | None | None | None | None | N |
| V/T | 0.1652 | likely_benign | 0.177 | benign | -0.718 | Destabilizing | 0.916 | D | 0.413 | neutral | None | None | None | None | N |
| V/W | 0.9174 | likely_pathogenic | 0.9456 | pathogenic | -1.152 | Destabilizing | 0.999 | D | 0.718 | prob.delet. | None | None | None | None | N |
| V/Y | 0.7143 | likely_pathogenic | 0.787 | pathogenic | -0.87 | Destabilizing | 0.987 | D | 0.465 | 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.