Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9561 | 28906;28907;28908 | chr2:178709638;178709637;178709636 | chr2:179574365;179574364;179574363 |
| N2AB | 9244 | 27955;27956;27957 | chr2:178709638;178709637;178709636 | chr2:179574365;179574364;179574363 |
| N2A | 8317 | 25174;25175;25176 | chr2:178709638;178709637;178709636 | chr2:179574365;179574364;179574363 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/T | rs373380202  |
-1.258 | 0.97 | None | 0.457 | 0.2 | None | gnomAD-2.1.1 | 3.57E-05 | None | None | None | None | N | None | 2.89352E-04 | 2.83E-05 | None | 0 | 0 | None | 0 | None | 0 | 7.79E-06 | 1.40213E-04 |
| A/T | rs373380202 |
-1.258 | 0.97 | None | 0.457 | 0.2 | None | gnomAD-3.1.2 | 1.11697E-04 | None | None | None | None | N | None | 3.6176E-04 | 1.30907E-04 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/T | rs373380202 |
-1.258 | 0.97 | None | 0.457 | 0.2 | None | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 8E-04 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
| A/T | rs373380202 |
-1.258 | 0.97 | None | 0.457 | 0.2 | None | gnomAD-4.0.0 | 2.23061E-05 | None | None | None | None | N | None | 2.79776E-04 | 4.99883E-05 | None | 0 | 2.22846E-05 | None | 0 | 0 | 3.39038E-06 | 1.09786E-05 | 9.604E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.6607 | likely_pathogenic | 0.667 | pathogenic | -1.022 | Destabilizing | 0.999 | D | 0.459 | neutral | None | None | None | None | N |
| A/D | 0.5786 | likely_pathogenic | 0.521 | ambiguous | -1.056 | Destabilizing | 0.976 | D | 0.54 | neutral | None | None | None | None | N |
| A/E | 0.4197 | ambiguous | 0.383 | ambiguous | -1.046 | Destabilizing | 0.939 | D | 0.465 | neutral | None | None | None | None | N |
| A/F | 0.5768 | likely_pathogenic | 0.5244 | ambiguous | -1.002 | Destabilizing | 0.991 | D | 0.599 | neutral | None | None | None | None | N |
| A/G | 0.2067 | likely_benign | 0.1864 | benign | -1.268 | Destabilizing | 0.035 | N | 0.143 | neutral | None | None | None | None | N |
| A/H | 0.71 | likely_pathogenic | 0.7037 | pathogenic | -1.401 | Destabilizing | 0.999 | D | 0.571 | neutral | None | None | None | None | N |
| A/I | 0.4301 | ambiguous | 0.3763 | ambiguous | -0.264 | Destabilizing | 0.321 | N | 0.28 | neutral | None | None | None | None | N |
| A/K | 0.6231 | likely_pathogenic | 0.6018 | pathogenic | -1.142 | Destabilizing | 0.939 | D | 0.473 | neutral | None | None | None | None | N |
| A/L | 0.3805 | ambiguous | 0.3505 | ambiguous | -0.264 | Destabilizing | 0.884 | D | 0.503 | neutral | None | None | None | None | N |
| A/M | 0.3733 | ambiguous | 0.3263 | benign | -0.272 | Destabilizing | 0.998 | D | 0.515 | neutral | None | None | None | None | N |
| A/N | 0.4823 | ambiguous | 0.4465 | ambiguous | -0.968 | Destabilizing | 0.982 | D | 0.548 | neutral | None | None | None | None | N |
| A/P | 0.8323 | likely_pathogenic | 0.8237 | pathogenic | -0.454 | Destabilizing | 0.995 | D | 0.518 | neutral | None | None | None | None | N |
| A/Q | 0.4996 | ambiguous | 0.4891 | ambiguous | -1.053 | Destabilizing | 0.991 | D | 0.53 | neutral | None | None | None | None | N |
| A/R | 0.4899 | ambiguous | 0.4797 | ambiguous | -0.881 | Destabilizing | 0.991 | D | 0.521 | neutral | None | None | None | None | N |
| A/S | 0.1076 | likely_benign | 0.1057 | benign | -1.412 | Destabilizing | 0.324 | N | 0.139 | neutral | None | None | None | None | N |
| A/T | 0.1186 | likely_benign | 0.1135 | benign | -1.287 | Destabilizing | 0.97 | D | 0.457 | neutral | None | None | None | None | N |
| A/V | 0.2109 | likely_benign | 0.1843 | benign | -0.454 | Destabilizing | 0.852 | D | 0.483 | neutral | None | None | None | None | N |
| A/W | 0.9069 | likely_pathogenic | 0.8955 | pathogenic | -1.383 | Destabilizing | 0.999 | D | 0.661 | neutral | None | None | None | None | N |
| A/Y | 0.7231 | likely_pathogenic | 0.704 | pathogenic | -0.94 | Destabilizing | 0.997 | D | 0.595 | 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.