Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15139 | 45640;45641;45642 | chr2:178621303;178621302;178621301 | chr2:179486030;179486029;179486028 |
| N2AB | 13498 | 40717;40718;40719 | chr2:178621303;178621302;178621301 | chr2:179486030;179486029;179486028 |
| N2A | 12571 | 37936;37937;37938 | chr2:178621303;178621302;178621301 | chr2:179486030;179486029;179486028 |
| N2B | 6074 | 18445;18446;18447 | chr2:178621303;178621302;178621301 | chr2:179486030;179486029;179486028 |
| Novex-1 | 6199 | 18820;18821;18822 | chr2:178621303;178621302;178621301 | chr2:179486030;179486029;179486028 |
| Novex-2 | 6266 | 19021;19022;19023 | chr2:178621303;178621302;178621301 | chr2:179486030;179486029;179486028 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/L | None | None | 0.999 | N | 0.673 | 0.591 | 0.426318900417 | gnomAD-4.0.0 | 1.59505E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.79392E-05 | None | 0 | 0 | 0 | 0 | 0 |
| F/S | rs1403204950  |
None | 1.0 | D | 0.892 | 0.771 | None | gnomAD-4.0.0 | 1.59503E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43476E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/A | 0.9963 | likely_pathogenic | 0.9969 | pathogenic | -2.539 | Highly Destabilizing | 1.0 | D | 0.83 | deleterious | None | None | None | None | N |
| F/C | 0.9928 | likely_pathogenic | 0.9948 | pathogenic | -1.401 | Destabilizing | 1.0 | D | 0.869 | deleterious | D | 0.794732641 | None | None | N |
| F/D | 0.9996 | likely_pathogenic | 0.9996 | pathogenic | -3.488 | Highly Destabilizing | 1.0 | D | 0.892 | deleterious | None | None | None | None | N |
| F/E | 0.9995 | likely_pathogenic | 0.9995 | pathogenic | -3.238 | Highly Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | None | None | N |
| F/G | 0.9983 | likely_pathogenic | 0.9984 | pathogenic | -3.003 | Highly Destabilizing | 1.0 | D | 0.895 | deleterious | None | None | None | None | N |
| F/H | 0.998 | likely_pathogenic | 0.9979 | pathogenic | -2.111 | Highly Destabilizing | 1.0 | D | 0.838 | deleterious | None | None | None | None | N |
| F/I | 0.8736 | likely_pathogenic | 0.8842 | pathogenic | -1.0 | Destabilizing | 1.0 | D | 0.795 | deleterious | D | 0.602012445 | None | None | N |
| F/K | 0.9996 | likely_pathogenic | 0.9995 | pathogenic | -2.155 | Highly Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | None | None | N |
| F/L | 0.972 | likely_pathogenic | 0.9819 | pathogenic | -1.0 | Destabilizing | 0.999 | D | 0.673 | neutral | N | 0.49557215 | None | None | N |
| F/M | 0.9312 | likely_pathogenic | 0.9428 | pathogenic | -0.733 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | N |
| F/N | 0.9988 | likely_pathogenic | 0.9987 | pathogenic | -2.881 | Highly Destabilizing | 1.0 | D | 0.896 | deleterious | None | None | None | None | N |
| F/P | 1.0 | likely_pathogenic | 1.0 | pathogenic | -1.529 | Destabilizing | 1.0 | D | 0.901 | deleterious | None | None | None | None | N |
| F/Q | 0.9994 | likely_pathogenic | 0.9994 | pathogenic | -2.643 | Highly Destabilizing | 1.0 | D | 0.898 | deleterious | None | None | None | None | N |
| F/R | 0.999 | likely_pathogenic | 0.9988 | pathogenic | -2.091 | Highly Destabilizing | 1.0 | D | 0.897 | deleterious | None | None | None | None | N |
| F/S | 0.9988 | likely_pathogenic | 0.9989 | pathogenic | -3.287 | Highly Destabilizing | 1.0 | D | 0.892 | deleterious | D | 0.794732641 | None | None | N |
| F/T | 0.9984 | likely_pathogenic | 0.9985 | pathogenic | -2.908 | Highly Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | N |
| F/V | 0.9403 | likely_pathogenic | 0.9436 | pathogenic | -1.529 | Destabilizing | 1.0 | D | 0.793 | deleterious | D | 0.683263391 | None | None | N |
| F/W | 0.9667 | likely_pathogenic | 0.9652 | pathogenic | -0.36 | Destabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | N |
| F/Y | 0.7745 | likely_pathogenic | 0.7695 | pathogenic | -0.786 | Destabilizing | 0.999 | D | 0.629 | neutral | D | 0.794683224 | 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.