Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21496 | 64711;64712;64713 | chr2:178585258;178585257;178585256 | chr2:179449985;179449984;179449983 |
| N2AB | 19855 | 59788;59789;59790 | chr2:178585258;178585257;178585256 | chr2:179449985;179449984;179449983 |
| N2A | 18928 | 57007;57008;57009 | chr2:178585258;178585257;178585256 | chr2:179449985;179449984;179449983 |
| N2B | 12431 | 37516;37517;37518 | chr2:178585258;178585257;178585256 | chr2:179449985;179449984;179449983 |
| Novex-1 | 12556 | 37891;37892;37893 | chr2:178585258;178585257;178585256 | chr2:179449985;179449984;179449983 |
| Novex-2 | 12623 | 38092;38093;38094 | chr2:178585258;178585257;178585256 | chr2:179449985;179449984;179449983 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | None | None | 1.0 | D | 0.796 | 0.504 | 0.611834235869 | gnomAD-4.0.0 | 6.84413E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99717E-07 | 0 | 0 |
| P/R | rs764155651  |
-0.708 | 1.0 | D | 0.856 | 0.537 | 0.720598499098 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| P/R | rs764155651 |
-0.708 | 1.0 | D | 0.856 | 0.537 | 0.720598499098 | gnomAD-4.0.0 | 1.5924E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43377E-05 | 0 |
| P/S | rs1174418465 |
-1.617 | 1.0 | D | 0.848 | 0.569 | 0.645989072673 | gnomAD-2.1.1 | 8.06E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 6.54E-05 | None | 0 | 0 | 0 |
| P/S | rs1174418465 |
-1.617 | 1.0 | D | 0.848 | 0.569 | 0.645989072673 | gnomAD-4.0.0 | 1.36883E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.32002E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.5733 | likely_pathogenic | 0.5152 | ambiguous | -1.257 | Destabilizing | 1.0 | D | 0.796 | deleterious | D | 0.531929196 | None | None | N |
| P/C | 0.9618 | likely_pathogenic | 0.9516 | pathogenic | -0.747 | Destabilizing | 1.0 | D | 0.784 | deleterious | None | None | None | None | N |
| P/D | 0.9991 | likely_pathogenic | 0.9988 | pathogenic | -1.855 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| P/E | 0.9971 | likely_pathogenic | 0.9961 | pathogenic | -1.935 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| P/F | 0.9972 | likely_pathogenic | 0.9965 | pathogenic | -1.43 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| P/G | 0.9714 | likely_pathogenic | 0.967 | pathogenic | -1.473 | Destabilizing | 1.0 | D | 0.822 | deleterious | None | None | None | None | N |
| P/H | 0.9947 | likely_pathogenic | 0.9933 | pathogenic | -1.144 | Destabilizing | 1.0 | D | 0.813 | deleterious | D | 0.565379456 | None | None | N |
| P/I | 0.9526 | likely_pathogenic | 0.9344 | pathogenic | -0.781 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| P/K | 0.9976 | likely_pathogenic | 0.9967 | pathogenic | -0.965 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| P/L | 0.92 | likely_pathogenic | 0.8982 | pathogenic | -0.781 | Destabilizing | 1.0 | D | 0.845 | deleterious | D | 0.542205411 | None | None | N |
| P/M | 0.9844 | likely_pathogenic | 0.9787 | pathogenic | -0.367 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| P/N | 0.9978 | likely_pathogenic | 0.9972 | pathogenic | -0.727 | Destabilizing | 1.0 | D | 0.854 | deleterious | None | None | None | None | N |
| P/Q | 0.9917 | likely_pathogenic | 0.9886 | pathogenic | -1.065 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| P/R | 0.9911 | likely_pathogenic | 0.989 | pathogenic | -0.38 | Destabilizing | 1.0 | D | 0.856 | deleterious | D | 0.564872477 | None | None | N |
| P/S | 0.9602 | likely_pathogenic | 0.9456 | pathogenic | -1.025 | Destabilizing | 1.0 | D | 0.848 | deleterious | D | 0.564365498 | None | None | N |
| P/T | 0.9464 | likely_pathogenic | 0.9222 | pathogenic | -1.022 | Destabilizing | 1.0 | D | 0.853 | deleterious | D | 0.564365498 | None | None | N |
| P/V | 0.889 | likely_pathogenic | 0.857 | pathogenic | -0.908 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| P/W | 0.9993 | likely_pathogenic | 0.9991 | pathogenic | -1.579 | Destabilizing | 1.0 | D | 0.78 | deleterious | None | None | None | None | N |
| P/Y | 0.9984 | likely_pathogenic | 0.9978 | pathogenic | -1.271 | Destabilizing | 1.0 | D | 0.841 | deleterious | 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.