Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25545 | 76858;76859;76860 | chr2:178569499;178569498;178569497 | chr2:179434226;179434225;179434224 |
| N2AB | 23904 | 71935;71936;71937 | chr2:178569499;178569498;178569497 | chr2:179434226;179434225;179434224 |
| N2A | 22977 | 69154;69155;69156 | chr2:178569499;178569498;178569497 | chr2:179434226;179434225;179434224 |
| N2B | 16480 | 49663;49664;49665 | chr2:178569499;178569498;178569497 | chr2:179434226;179434225;179434224 |
| Novex-1 | 16605 | 50038;50039;50040 | chr2:178569499;178569498;178569497 | chr2:179434226;179434225;179434224 |
| Novex-2 | 16672 | 50239;50240;50241 | chr2:178569499;178569498;178569497 | chr2:179434226;179434225;179434224 |
| 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/R | rs575965326  |
-0.709 | 0.275 | N | 0.622 | 0.215 | 0.260735089382 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.28E-05 | None | 0 | 0 | 0 |
| G/R | rs575965326 |
-0.709 | 0.275 | N | 0.622 | 0.215 | 0.260735089382 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07469E-04 | 0 |
| G/R | rs575965326 |
-0.709 | 0.275 | N | 0.622 | 0.215 | 0.260735089382 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 0 | 0 | None | None | None | 1E-03 | None |
| G/R | rs575965326 |
-0.709 | 0.275 | N | 0.622 | 0.215 | 0.260735089382 | gnomAD-4.0.0 | 2.48044E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 4.39647E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.0859 | likely_benign | 0.0879 | benign | -0.36 | Destabilizing | 0.958 | D | 0.595 | neutral | N | 0.389540765 | None | None | N |
| G/C | 0.1464 | likely_benign | 0.1517 | benign | -0.666 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| G/D | 0.2079 | likely_benign | 0.2331 | benign | -0.567 | Destabilizing | 0.995 | D | 0.841 | deleterious | None | None | None | None | N |
| G/E | 0.1289 | likely_benign | 0.1386 | benign | -0.476 | Destabilizing | 0.988 | D | 0.823 | deleterious | N | 0.340421453 | None | None | N |
| G/F | 0.4304 | ambiguous | 0.4614 | ambiguous | -0.479 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| G/H | 0.2858 | likely_benign | 0.3198 | benign | -1.273 | Destabilizing | 0.999 | D | 0.84 | deleterious | None | None | None | None | N |
| G/I | 0.1887 | likely_benign | 0.1973 | benign | 0.511 | Stabilizing | 0.991 | D | 0.843 | deleterious | None | None | None | None | N |
| G/K | 0.2796 | likely_benign | 0.3106 | benign | -0.652 | Destabilizing | 0.982 | D | 0.793 | deleterious | None | None | None | None | N |
| G/L | 0.25 | likely_benign | 0.2668 | benign | 0.511 | Stabilizing | 0.991 | D | 0.821 | deleterious | None | None | None | None | N |
| G/M | 0.2654 | likely_benign | 0.2863 | benign | 0.212 | Stabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| G/N | 0.1925 | likely_benign | 0.2199 | benign | -0.617 | Destabilizing | 0.991 | D | 0.808 | deleterious | None | None | None | None | N |
| G/P | 0.9774 | likely_pathogenic | 0.983 | pathogenic | 0.268 | Stabilizing | 0.998 | D | 0.851 | deleterious | None | None | None | None | N |
| G/Q | 0.1898 | likely_benign | 0.2094 | benign | -0.501 | Destabilizing | 0.991 | D | 0.857 | deleterious | None | None | None | None | N |
| G/R | 0.2301 | likely_benign | 0.2518 | benign | -0.803 | Destabilizing | 0.275 | N | 0.622 | neutral | N | 0.376264823 | None | None | N |
| G/S | 0.0771 | likely_benign | 0.0815 | benign | -1.058 | Destabilizing | 0.938 | D | 0.692 | prob.neutral | None | None | None | None | N |
| G/T | 0.091 | likely_benign | 0.0965 | benign | -0.825 | Destabilizing | 0.484 | N | 0.582 | neutral | None | None | None | None | N |
| G/V | 0.1263 | likely_benign | 0.1311 | benign | 0.268 | Stabilizing | 0.988 | D | 0.826 | deleterious | N | 0.399795044 | None | None | N |
| G/W | 0.3844 | ambiguous | 0.4223 | ambiguous | -1.072 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| G/Y | 0.3261 | likely_benign | 0.3626 | ambiguous | -0.456 | Destabilizing | 1.0 | D | 0.843 | 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.