Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33227 | 99904;99905;99906 | chr2:178537528;178537527;178537526 | chr2:179402255;179402254;179402253 |
| N2AB | 31586 | 94981;94982;94983 | chr2:178537528;178537527;178537526 | chr2:179402255;179402254;179402253 |
| N2A | 30659 | 92200;92201;92202 | chr2:178537528;178537527;178537526 | chr2:179402255;179402254;179402253 |
| N2B | 24162 | 72709;72710;72711 | chr2:178537528;178537527;178537526 | chr2:179402255;179402254;179402253 |
| Novex-1 | 24287 | 73084;73085;73086 | chr2:178537528;178537527;178537526 | chr2:179402255;179402254;179402253 |
| Novex-2 | 24354 | 73285;73286;73287 | chr2:178537528;178537527;178537526 | chr2:179402255;179402254;179402253 |
| 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/D | rs1430566252  |
-1.725 | 0.175 | N | 0.449 | 0.297 | 0.456089687795 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 2.87687E-04 | 0 | 0 |
| A/D | rs1430566252 |
-1.725 | 0.175 | N | 0.449 | 0.297 | 0.456089687795 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 9.42E-05 | 0 | 0 | 0 | 0 |
| A/D | rs1430566252 |
-1.725 | 0.175 | N | 0.449 | 0.297 | 0.456089687795 | gnomAD-4.0.0 | 6.57462E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 9.42329E-05 | 0 | 0 | 0 | 0 |
| A/V | rs1430566252 |
-0.434 | 0.229 | N | 0.304 | 0.139 | 0.362960570912 | gnomAD-2.1.1 | 8.04E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.77E-05 | 0 |
| A/V | rs1430566252 |
-0.434 | 0.229 | N | 0.304 | 0.139 | 0.362960570912 | gnomAD-4.0.0 | 3.42123E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.59796E-06 | 0 | 1.65689E-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 | 0.5592 | ambiguous | 0.5957 | pathogenic | -0.744 | Destabilizing | 0.938 | D | 0.366 | neutral | None | None | None | None | I |
| A/D | 0.259 | likely_benign | 0.2476 | benign | -1.141 | Destabilizing | 0.175 | N | 0.449 | neutral | N | 0.424139781 | None | None | I |
| A/E | 0.1685 | likely_benign | 0.1697 | benign | -1.267 | Destabilizing | 0.282 | N | 0.334 | neutral | None | None | None | None | I |
| A/F | 0.3676 | ambiguous | 0.4059 | ambiguous | -1.203 | Destabilizing | 0.937 | D | 0.487 | neutral | None | None | None | None | I |
| A/G | 0.1906 | likely_benign | 0.1895 | benign | -0.856 | Destabilizing | 0.02 | N | 0.31 | neutral | N | 0.500139049 | None | None | I |
| A/H | 0.4155 | ambiguous | 0.4073 | ambiguous | -1.002 | Destabilizing | 0.983 | D | 0.473 | neutral | None | None | None | None | I |
| A/I | 0.2352 | likely_benign | 0.2426 | benign | -0.539 | Destabilizing | 0.786 | D | 0.397 | neutral | None | None | None | None | I |
| A/K | 0.2699 | likely_benign | 0.2781 | benign | -1.116 | Destabilizing | 0.512 | D | 0.34 | neutral | None | None | None | None | I |
| A/L | 0.1824 | likely_benign | 0.1767 | benign | -0.539 | Destabilizing | 0.512 | D | 0.347 | neutral | None | None | None | None | I |
| A/M | 0.2246 | likely_benign | 0.2319 | benign | -0.34 | Destabilizing | 0.937 | D | 0.392 | neutral | None | None | None | None | I |
| A/N | 0.2123 | likely_benign | 0.2059 | benign | -0.676 | Destabilizing | 0.103 | N | 0.448 | neutral | None | None | None | None | I |
| A/P | 0.6916 | likely_pathogenic | 0.5878 | pathogenic | -0.562 | Destabilizing | 0.598 | D | 0.399 | neutral | N | 0.500312407 | None | None | I |
| A/Q | 0.2106 | likely_benign | 0.2096 | benign | -0.976 | Destabilizing | 0.076 | N | 0.245 | neutral | None | None | None | None | I |
| A/R | 0.2587 | likely_benign | 0.2806 | benign | -0.584 | Destabilizing | 0.88 | D | 0.39 | neutral | None | None | None | None | I |
| A/S | 0.0918 | likely_benign | 0.0882 | benign | -0.871 | Destabilizing | None | N | 0.241 | neutral | N | 0.430217604 | None | None | I |
| A/T | 0.0793 | likely_benign | 0.0763 | benign | -0.924 | Destabilizing | 0.001 | N | 0.28 | neutral | N | 0.425851934 | None | None | I |
| A/V | 0.1202 | likely_benign | 0.1209 | benign | -0.562 | Destabilizing | 0.229 | N | 0.304 | neutral | N | 0.456521558 | None | None | I |
| A/W | 0.8119 | likely_pathogenic | 0.8247 | pathogenic | -1.401 | Destabilizing | 0.994 | D | 0.618 | neutral | None | None | None | None | I |
| A/Y | 0.5173 | ambiguous | 0.5261 | ambiguous | -1.064 | Destabilizing | 0.937 | D | 0.491 | neutral | None | None | None | None | I |
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.