Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25832 | 77719;77720;77721 | chr2:178568638;178568637;178568636 | chr2:179433365;179433364;179433363 |
| N2AB | 24191 | 72796;72797;72798 | chr2:178568638;178568637;178568636 | chr2:179433365;179433364;179433363 |
| N2A | 23264 | 70015;70016;70017 | chr2:178568638;178568637;178568636 | chr2:179433365;179433364;179433363 |
| N2B | 16767 | 50524;50525;50526 | chr2:178568638;178568637;178568636 | chr2:179433365;179433364;179433363 |
| Novex-1 | 16892 | 50899;50900;50901 | chr2:178568638;178568637;178568636 | chr2:179433365;179433364;179433363 |
| Novex-2 | 16959 | 51100;51101;51102 | chr2:178568638;178568637;178568636 | chr2:179433365;179433364;179433363 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | rs1196912169  |
-1.39 | 0.309 | N | 0.552 | 0.102 | 0.112648838833 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| T/A | rs1196912169 |
-1.39 | 0.309 | N | 0.552 | 0.102 | 0.112648838833 | gnomAD-4.0.0 | 1.59205E-06 | None | None | None | None | N | None | 0 | 2.28739E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/I | None | None | 0.521 | N | 0.543 | 0.134 | 0.27855597813 | gnomAD-4.0.0 | 1.59202E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.02535E-05 |
| T/N | rs1706884873 |
None | 0.063 | N | 0.364 | 0.106 | 0.20549828249 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 6.56E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/N | rs1706884873 |
None | 0.063 | N | 0.364 | 0.106 | 0.20549828249 | gnomAD-4.0.0 | 6.57696E-06 | None | None | None | None | N | None | 0 | 6.5591E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.0872 | likely_benign | 0.0842 | benign | -1.356 | Destabilizing | 0.309 | N | 0.552 | neutral | N | 0.499921966 | None | None | N |
| T/C | 0.2321 | likely_benign | 0.223 | benign | -0.906 | Destabilizing | 0.996 | D | 0.562 | neutral | None | None | None | None | N |
| T/D | 0.3359 | likely_benign | 0.3266 | benign | -0.693 | Destabilizing | 0.59 | D | 0.577 | neutral | None | None | None | None | N |
| T/E | 0.1974 | likely_benign | 0.1895 | benign | -0.558 | Destabilizing | 0.742 | D | 0.559 | neutral | None | None | None | None | N |
| T/F | 0.1272 | likely_benign | 0.121 | benign | -1.314 | Destabilizing | 0.91 | D | 0.599 | neutral | None | None | None | None | N |
| T/G | 0.2134 | likely_benign | 0.2035 | benign | -1.707 | Destabilizing | 0.742 | D | 0.561 | neutral | None | None | None | None | N |
| T/H | 0.1482 | likely_benign | 0.1419 | benign | -1.864 | Destabilizing | 0.987 | D | 0.589 | neutral | None | None | None | None | N |
| T/I | 0.1059 | likely_benign | 0.0995 | benign | -0.456 | Destabilizing | 0.521 | D | 0.543 | neutral | N | 0.510176245 | None | None | N |
| T/K | 0.1335 | likely_benign | 0.1296 | benign | -0.451 | Destabilizing | 0.742 | D | 0.558 | neutral | None | None | None | None | N |
| T/L | 0.0575 | likely_benign | 0.0564 | benign | -0.456 | Destabilizing | 0.004 | N | 0.303 | neutral | None | None | None | None | N |
| T/M | 0.0601 | likely_benign | 0.0598 | benign | -0.282 | Destabilizing | 0.91 | D | 0.585 | neutral | None | None | None | None | N |
| T/N | 0.0987 | likely_benign | 0.0908 | benign | -0.845 | Destabilizing | 0.063 | N | 0.364 | neutral | N | 0.511043036 | None | None | N |
| T/P | 0.7969 | likely_pathogenic | 0.804 | pathogenic | -0.726 | Destabilizing | 0.979 | D | 0.597 | neutral | N | 0.48154505 | None | None | N |
| T/Q | 0.132 | likely_benign | 0.1275 | benign | -0.803 | Destabilizing | 0.953 | D | 0.595 | neutral | None | None | None | None | N |
| T/R | 0.118 | likely_benign | 0.1147 | benign | -0.538 | Destabilizing | 0.953 | D | 0.601 | neutral | None | None | None | None | N |
| T/S | 0.0899 | likely_benign | 0.0861 | benign | -1.232 | Destabilizing | 0.078 | N | 0.404 | neutral | N | 0.469137699 | None | None | N |
| T/V | 0.0861 | likely_benign | 0.0832 | benign | -0.726 | Destabilizing | 0.009 | N | 0.389 | neutral | None | None | None | None | N |
| T/W | 0.3877 | ambiguous | 0.3699 | ambiguous | -1.256 | Destabilizing | 0.996 | D | 0.641 | neutral | None | None | None | None | N |
| T/Y | 0.1636 | likely_benign | 0.154 | benign | -0.948 | Destabilizing | 0.953 | D | 0.619 | neutral | 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.