Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25554 | 76885;76886;76887 | chr2:178569472;178569471;178569470 | chr2:179434199;179434198;179434197 |
| N2AB | 23913 | 71962;71963;71964 | chr2:178569472;178569471;178569470 | chr2:179434199;179434198;179434197 |
| N2A | 22986 | 69181;69182;69183 | chr2:178569472;178569471;178569470 | chr2:179434199;179434198;179434197 |
| N2B | 16489 | 49690;49691;49692 | chr2:178569472;178569471;178569470 | chr2:179434199;179434198;179434197 |
| Novex-1 | 16614 | 50065;50066;50067 | chr2:178569472;178569471;178569470 | chr2:179434199;179434198;179434197 |
| Novex-2 | 16681 | 50266;50267;50268 | chr2:178569472;178569471;178569470 | chr2:179434199;179434198;179434197 |
| 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/G | rs879087699  |
-0.064 | 0.201 | N | 0.325 | 0.169 | None | gnomAD-2.1.1 | 7.16E-06 | None | None | None | None | N | None | 8.27E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| A/G | rs879087699 |
-0.064 | 0.201 | N | 0.325 | 0.169 | None | gnomAD-3.1.2 | 3.29E-05 | None | None | None | None | N | None | 1.20715E-04 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/G | rs879087699 |
-0.064 | 0.201 | N | 0.325 | 0.169 | None | gnomAD-4.0.0 | 4.34072E-06 | None | None | None | None | N | None | 8.0156E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.6022E-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 | 0.3803 | ambiguous | 0.4042 | ambiguous | -0.771 | Destabilizing | 0.992 | D | 0.313 | neutral | None | None | None | None | N |
| A/D | 0.1849 | likely_benign | 0.1871 | benign | -0.559 | Destabilizing | 0.005 | N | 0.265 | neutral | None | None | None | None | N |
| A/E | 0.1969 | likely_benign | 0.2048 | benign | -0.708 | Destabilizing | 0.379 | N | 0.344 | neutral | N | 0.43991087 | None | None | N |
| A/F | 0.3224 | likely_benign | 0.3423 | ambiguous | -0.874 | Destabilizing | 0.85 | D | 0.38 | neutral | None | None | None | None | N |
| A/G | 0.1176 | likely_benign | 0.1254 | benign | -0.327 | Destabilizing | 0.201 | N | 0.325 | neutral | N | 0.427517576 | None | None | N |
| A/H | 0.3449 | ambiguous | 0.3671 | ambiguous | -0.4 | Destabilizing | 0.92 | D | 0.348 | neutral | None | None | None | None | N |
| A/I | 0.2003 | likely_benign | 0.2013 | benign | -0.329 | Destabilizing | 0.012 | N | 0.236 | neutral | None | None | None | None | N |
| A/K | 0.2922 | likely_benign | 0.323 | benign | -0.732 | Destabilizing | 0.447 | N | 0.34 | neutral | None | None | None | None | N |
| A/L | 0.1632 | likely_benign | 0.167 | benign | -0.329 | Destabilizing | 0.25 | N | 0.351 | neutral | None | None | None | None | N |
| A/M | 0.178 | likely_benign | 0.1881 | benign | -0.453 | Destabilizing | 0.85 | D | 0.33 | neutral | None | None | None | None | N |
| A/N | 0.1465 | likely_benign | 0.154 | benign | -0.384 | Destabilizing | 0.021 | N | 0.275 | neutral | None | None | None | None | N |
| A/P | 0.329 | likely_benign | 0.3674 | ambiguous | -0.278 | Destabilizing | 0.896 | D | 0.369 | neutral | N | 0.456304474 | None | None | N |
| A/Q | 0.2744 | likely_benign | 0.2909 | benign | -0.652 | Destabilizing | 0.85 | D | 0.373 | neutral | None | None | None | None | N |
| A/R | 0.3072 | likely_benign | 0.3405 | ambiguous | -0.277 | Destabilizing | 0.85 | D | 0.375 | neutral | None | None | None | None | N |
| A/S | 0.0852 | likely_benign | 0.086 | benign | -0.558 | Destabilizing | 0.016 | N | 0.215 | neutral | N | 0.382398575 | None | None | N |
| A/T | 0.07 | likely_benign | 0.0714 | benign | -0.63 | Destabilizing | 0.007 | N | 0.127 | neutral | N | 0.40004576 | None | None | N |
| A/V | 0.1147 | likely_benign | 0.117 | benign | -0.278 | Destabilizing | 0.201 | N | 0.317 | neutral | N | 0.478469258 | None | None | N |
| A/W | 0.6891 | likely_pathogenic | 0.7184 | pathogenic | -1.03 | Destabilizing | 0.992 | D | 0.441 | neutral | None | None | None | None | N |
| A/Y | 0.3721 | ambiguous | 0.3984 | ambiguous | -0.686 | Destabilizing | 0.972 | D | 0.357 | 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.