Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30209 | 90850;90851;90852 | chr2:178552275;178552274;178552273 | chr2:179417002;179417001;179417000 |
| N2AB | 28568 | 85927;85928;85929 | chr2:178552275;178552274;178552273 | chr2:179417002;179417001;179417000 |
| N2A | 27641 | 83146;83147;83148 | chr2:178552275;178552274;178552273 | chr2:179417002;179417001;179417000 |
| N2B | 21144 | 63655;63656;63657 | chr2:178552275;178552274;178552273 | chr2:179417002;179417001;179417000 |
| Novex-1 | 21269 | 64030;64031;64032 | chr2:178552275;178552274;178552273 | chr2:179417002;179417001;179417000 |
| Novex-2 | 21336 | 64231;64232;64233 | chr2:178552275;178552274;178552273 | chr2:179417002;179417001;179417000 |
| 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/P | None | None | 0.006 | N | 0.195 | 0.282 | 0.253726318573 | gnomAD-4.0.0 | 1.59199E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 2.41546E-04 | 0 | 0 | 0 |
| A/T | None | None | 0.425 | N | 0.131 | 0.084 | 0.249502417897 | gnomAD-4.0.0 | 1.59199E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85909E-06 | 0 | 0 |
| A/V | None | None | 0.006 | N | 0.165 | 0.179 | 0.353336612579 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.4938 | ambiguous | 0.4724 | ambiguous | -0.827 | Destabilizing | 0.995 | D | 0.209 | neutral | None | None | None | None | I |
| A/D | 0.3578 | ambiguous | 0.2937 | benign | -0.657 | Destabilizing | 0.828 | D | 0.291 | neutral | None | None | None | None | I |
| A/E | 0.329 | likely_benign | 0.2905 | benign | -0.812 | Destabilizing | 0.425 | N | 0.251 | neutral | N | 0.445744417 | None | None | I |
| A/F | 0.4113 | ambiguous | 0.3686 | ambiguous | -0.965 | Destabilizing | 0.893 | D | 0.309 | neutral | None | None | None | None | I |
| A/G | 0.1714 | likely_benign | 0.1478 | benign | -0.268 | Destabilizing | 0.001 | N | 0.096 | neutral | N | 0.460100581 | None | None | I |
| A/H | 0.4646 | ambiguous | 0.4089 | ambiguous | -0.265 | Destabilizing | 0.981 | D | 0.292 | neutral | None | None | None | None | I |
| A/I | 0.1945 | likely_benign | 0.1931 | benign | -0.436 | Destabilizing | 0.543 | D | 0.246 | neutral | None | None | None | None | I |
| A/K | 0.4195 | ambiguous | 0.3866 | ambiguous | -0.622 | Destabilizing | 0.031 | N | 0.145 | neutral | None | None | None | None | I |
| A/L | 0.1678 | likely_benign | 0.1594 | benign | -0.436 | Destabilizing | 0.003 | N | 0.13 | neutral | None | None | None | None | I |
| A/M | 0.21 | likely_benign | 0.199 | benign | -0.561 | Destabilizing | 0.893 | D | 0.246 | neutral | None | None | None | None | I |
| A/N | 0.2225 | likely_benign | 0.186 | benign | -0.305 | Destabilizing | 0.704 | D | 0.301 | neutral | None | None | None | None | I |
| A/P | 0.2322 | likely_benign | 0.1849 | benign | -0.352 | Destabilizing | 0.006 | N | 0.195 | neutral | N | 0.460100581 | None | None | I |
| A/Q | 0.3427 | ambiguous | 0.318 | benign | -0.586 | Destabilizing | 0.704 | D | 0.254 | neutral | None | None | None | None | I |
| A/R | 0.4231 | ambiguous | 0.3895 | ambiguous | -0.151 | Destabilizing | 0.003 | N | 0.115 | neutral | None | None | None | None | I |
| A/S | 0.0991 | likely_benign | 0.0881 | benign | -0.464 | Destabilizing | 0.425 | N | 0.205 | neutral | N | 0.424675711 | None | None | I |
| A/T | 0.0875 | likely_benign | 0.0813 | benign | -0.549 | Destabilizing | 0.425 | N | 0.131 | neutral | N | 0.471779012 | None | None | I |
| A/V | 0.1106 | likely_benign | 0.1119 | benign | -0.352 | Destabilizing | 0.006 | N | 0.165 | neutral | N | 0.441496177 | None | None | I |
| A/W | 0.8187 | likely_pathogenic | 0.7767 | pathogenic | -1.068 | Destabilizing | 0.995 | D | 0.284 | neutral | None | None | None | None | I |
| A/Y | 0.5388 | ambiguous | 0.4857 | ambiguous | -0.752 | Destabilizing | 0.981 | D | 0.291 | 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.