Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 129 | 610;611;612 | chr2:178800593;178800592;178800591 | chr2:179665320;179665319;179665318 |
| N2AB | 129 | 610;611;612 | chr2:178800593;178800592;178800591 | chr2:179665320;179665319;179665318 |
| N2A | 129 | 610;611;612 | chr2:178800593;178800592;178800591 | chr2:179665320;179665319;179665318 |
| N2B | 129 | 610;611;612 | chr2:178800593;178800592;178800591 | chr2:179665320;179665319;179665318 |
| Novex-1 | 129 | 610;611;612 | chr2:178800593;178800592;178800591 | chr2:179665320;179665319;179665318 |
| Novex-2 | 129 | 610;611;612 | chr2:178800593;178800592;178800591 | chr2:179665320;179665319;179665318 |
| Novex-3 | 129 | 610;611;612 | chr2:178800593;178800592;178800591 | chr2:179665320;179665319;179665318 |
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/E | None | None | 1.0 | D | 0.813 | 0.776 | 0.860050144884 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | -1.372(TCAP) | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| G/R | rs727503708  |
None | 0.986 | D | 0.59 | 0.88 | 0.867954797308 | gnomAD-4.0.0 | 1.59097E-06 | None | None | None | -2.1(TCAP) | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85727E-06 | 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 | 0.8059 | likely_pathogenic | 0.8118 | pathogenic | -0.559 | Destabilizing | 0.999 | D | 0.685 | prob.neutral | D | 0.60671075 | None | -0.733(TCAP) | N |
| G/C | 0.9845 | likely_pathogenic | 0.9849 | pathogenic | -0.8 | Destabilizing | 1.0 | D | 0.704 | prob.neutral | None | None | None | -0.882(TCAP) | N |
| G/D | 0.946 | likely_pathogenic | 0.9559 | pathogenic | -1.154 | Destabilizing | 1.0 | D | 0.828 | deleterious | None | None | None | -1.197(TCAP) | N |
| G/E | 0.9715 | likely_pathogenic | 0.9748 | pathogenic | -1.298 | Destabilizing | 1.0 | D | 0.813 | deleterious | D | 0.810671481 | None | -1.372(TCAP) | N |
| G/F | 0.9977 | likely_pathogenic | 0.9979 | pathogenic | -1.166 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | -0.736(TCAP) | N |
| G/H | 0.9959 | likely_pathogenic | 0.9967 | pathogenic | -1.057 | Destabilizing | 1.0 | D | 0.731 | prob.delet. | None | None | None | -0.711(TCAP) | N |
| G/I | 0.9919 | likely_pathogenic | 0.9931 | pathogenic | -0.53 | Destabilizing | 1.0 | D | 0.798 | deleterious | None | None | None | -1.161(TCAP) | N |
| G/K | 0.9957 | likely_pathogenic | 0.9963 | pathogenic | -1.298 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | -1.789(TCAP) | N |
| G/L | 0.9932 | likely_pathogenic | 0.9944 | pathogenic | -0.53 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | -1.161(TCAP) | N |
| G/M | 0.996 | likely_pathogenic | 0.9968 | pathogenic | -0.405 | Destabilizing | 1.0 | D | 0.718 | prob.delet. | None | None | None | -0.821(TCAP) | N |
| G/N | 0.9723 | likely_pathogenic | 0.9788 | pathogenic | -0.817 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | -1.25(TCAP) | N |
| G/P | 0.9984 | likely_pathogenic | 0.9986 | pathogenic | -0.504 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | -1.013(TCAP) | N |
| G/Q | 0.9894 | likely_pathogenic | 0.9914 | pathogenic | -1.115 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | -1.301(TCAP) | N |
| G/R | 0.9869 | likely_pathogenic | 0.9877 | pathogenic | -0.808 | Destabilizing | 0.986 | D | 0.59 | neutral | D | 0.785260493 | None | -2.1(TCAP) | N |
| G/S | 0.7284 | likely_pathogenic | 0.7428 | pathogenic | -0.911 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | -0.874(TCAP) | N |
| G/T | 0.954 | likely_pathogenic | 0.9628 | pathogenic | -1.0 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | -1.055(TCAP) | N |
| G/V | 0.9788 | likely_pathogenic | 0.9816 | pathogenic | -0.504 | Destabilizing | 1.0 | D | 0.801 | deleterious | D | 0.838553301 | None | -1.013(TCAP) | N |
| G/W | 0.9954 | likely_pathogenic | 0.9953 | pathogenic | -1.399 | Destabilizing | 1.0 | D | 0.686 | prob.neutral | None | None | None | -0.865(TCAP) | N |
| G/Y | 0.9964 | likely_pathogenic | 0.9968 | pathogenic | -1.061 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | -0.742(TCAP) | 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.