Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24838 | 74737;74738;74739 | chr2:178571620;178571619;178571618 | chr2:179436347;179436346;179436345 |
| N2AB | 23197 | 69814;69815;69816 | chr2:178571620;178571619;178571618 | chr2:179436347;179436346;179436345 |
| N2A | 22270 | 67033;67034;67035 | chr2:178571620;178571619;178571618 | chr2:179436347;179436346;179436345 |
| N2B | 15773 | 47542;47543;47544 | chr2:178571620;178571619;178571618 | chr2:179436347;179436346;179436345 |
| Novex-1 | 15898 | 47917;47918;47919 | chr2:178571620;178571619;178571618 | chr2:179436347;179436346;179436345 |
| Novex-2 | 15965 | 48118;48119;48120 | chr2:178571620;178571619;178571618 | chr2:179436347;179436346;179436345 |
| 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/A | rs200723435  |
0.05 | 1.0 | N | 0.626 | 0.473 | None | gnomAD-2.1.1 | 8.09E-06 | None | None | None | None | I | None | 0 | 2.91E-05 | None | 0 | 0 | None | 0 | None | 0 | 8.97E-06 | 0 |
| G/A | rs200723435 |
0.05 | 1.0 | N | 0.626 | 0.473 | None | gnomAD-3.1.2 | 3.29E-05 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 7.35E-05 | 0 | 0 |
| G/A | rs200723435 |
0.05 | 1.0 | N | 0.626 | 0.473 | None | gnomAD-4.0.0 | 3.2855E-05 | None | None | None | None | I | None | 1.33543E-05 | 1.66806E-05 | None | 0 | 0 | None | 0 | 0 | 4.32359E-05 | 0 | 0 |
| G/R | None | None | 1.0 | N | 0.807 | 0.547 | 0.729862137799 | gnomAD-4.0.0 | 1.59241E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.02627E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.915 | likely_pathogenic | 0.9032 | pathogenic | -0.23 | Destabilizing | 1.0 | D | 0.626 | neutral | N | 0.503519279 | None | None | I |
| G/C | 0.9635 | likely_pathogenic | 0.9469 | pathogenic | -0.836 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | I |
| G/D | 0.9867 | likely_pathogenic | 0.9829 | pathogenic | 0.078 | Stabilizing | 1.0 | D | 0.711 | prob.delet. | None | None | None | None | I |
| G/E | 0.9913 | likely_pathogenic | 0.9884 | pathogenic | -0.066 | Destabilizing | 1.0 | D | 0.802 | deleterious | D | 0.528993821 | None | None | I |
| G/F | 0.9918 | likely_pathogenic | 0.9891 | pathogenic | -0.867 | Destabilizing | 1.0 | D | 0.786 | deleterious | None | None | None | None | I |
| G/H | 0.9923 | likely_pathogenic | 0.9894 | pathogenic | -0.377 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | I |
| G/I | 0.9912 | likely_pathogenic | 0.9884 | pathogenic | -0.346 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | I |
| G/K | 0.9929 | likely_pathogenic | 0.9907 | pathogenic | -0.492 | Destabilizing | 1.0 | D | 0.802 | deleterious | None | None | None | None | I |
| G/L | 0.9888 | likely_pathogenic | 0.9853 | pathogenic | -0.346 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | I |
| G/M | 0.9941 | likely_pathogenic | 0.9915 | pathogenic | -0.501 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | I |
| G/N | 0.9762 | likely_pathogenic | 0.9661 | pathogenic | -0.181 | Destabilizing | 1.0 | D | 0.703 | prob.neutral | None | None | None | None | I |
| G/P | 0.9985 | likely_pathogenic | 0.998 | pathogenic | -0.275 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | I |
| G/Q | 0.9869 | likely_pathogenic | 0.9821 | pathogenic | -0.385 | Destabilizing | 1.0 | D | 0.808 | deleterious | None | None | None | None | I |
| G/R | 0.9805 | likely_pathogenic | 0.9744 | pathogenic | -0.17 | Destabilizing | 1.0 | D | 0.807 | deleterious | N | 0.515409016 | None | None | I |
| G/S | 0.8417 | likely_pathogenic | 0.8143 | pathogenic | -0.434 | Destabilizing | 1.0 | D | 0.717 | prob.delet. | None | None | None | None | I |
| G/T | 0.9798 | likely_pathogenic | 0.9735 | pathogenic | -0.488 | Destabilizing | 1.0 | D | 0.802 | deleterious | None | None | None | None | I |
| G/V | 0.9861 | likely_pathogenic | 0.9822 | pathogenic | -0.275 | Destabilizing | 1.0 | D | 0.801 | deleterious | D | 0.540007732 | None | None | I |
| G/W | 0.9902 | likely_pathogenic | 0.9875 | pathogenic | -1.005 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | I |
| G/Y | 0.989 | likely_pathogenic | 0.985 | pathogenic | -0.654 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | I |
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.