Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9035 | 27328;27329;27330 | chr2:178712922;178712921;178712920 | chr2:179577649;179577648;179577647 |
| N2AB | 8718 | 26377;26378;26379 | chr2:178712922;178712921;178712920 | chr2:179577649;179577648;179577647 |
| N2A | 7791 | 23596;23597;23598 | chr2:178712922;178712921;178712920 | chr2:179577649;179577648;179577647 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/D | None | None | 0.002 | N | 0.121 | 0.098 | 0.0806252709748 | gnomAD-4.0.0 | 6.8452E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99705E-07 | 0 | 0 |
| N/H | rs761176331  |
-0.957 | 0.921 | N | 0.343 | 0.218 | 0.141422826196 | gnomAD-2.1.1 | 3.24E-05 | None | None | None | None | N | None | 0 | 2.0432E-04 | None | 0 | 0 | None | 0 | None | 0 | 0 | 1.6756E-04 |
| N/H | rs761176331 |
-0.957 | 0.921 | N | 0.343 | 0.218 | 0.141422826196 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| N/H | rs761176331 |
-0.957 | 0.921 | N | 0.343 | 0.218 | 0.141422826196 | gnomAD-4.0.0 | 8.67838E-06 | None | None | None | None | N | None | 0 | 1.502E-04 | None | 0 | 2.22975E-05 | None | 0 | 0 | 2.54347E-06 | 0 | 1.60123E-05 |
| N/S | rs1380931214 |
-0.595 | 0.021 | N | 0.115 | 0.079 | 0.0611884634855 | gnomAD-2.1.1 | 4.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.96E-06 | 0 |
| N/S | rs1380931214 |
-0.595 | 0.021 | N | 0.115 | 0.079 | 0.0611884634855 | gnomAD-4.0.0 | 1.5931E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86079E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/A | 0.1732 | likely_benign | 0.1836 | benign | -0.771 | Destabilizing | 0.129 | N | 0.346 | neutral | None | None | None | None | N |
| N/C | 0.3925 | ambiguous | 0.4215 | ambiguous | 0.154 | Stabilizing | 0.983 | D | 0.343 | neutral | None | None | None | None | N |
| N/D | 0.1133 | likely_benign | 0.1217 | benign | 0.064 | Stabilizing | 0.002 | N | 0.121 | neutral | N | 0.47529288 | None | None | N |
| N/E | 0.3521 | ambiguous | 0.3758 | ambiguous | 0.101 | Stabilizing | 0.129 | N | 0.197 | neutral | None | None | None | None | N |
| N/F | 0.6253 | likely_pathogenic | 0.6397 | pathogenic | -0.781 | Destabilizing | 0.836 | D | 0.367 | neutral | None | None | None | None | N |
| N/G | 0.2332 | likely_benign | 0.2447 | benign | -1.044 | Destabilizing | 0.228 | N | 0.245 | neutral | None | None | None | None | N |
| N/H | 0.1328 | likely_benign | 0.1343 | benign | -0.862 | Destabilizing | 0.921 | D | 0.343 | neutral | N | 0.461883859 | None | None | N |
| N/I | 0.3219 | likely_benign | 0.3438 | ambiguous | -0.108 | Destabilizing | 0.213 | N | 0.399 | neutral | N | 0.458756761 | None | None | N |
| N/K | 0.2748 | likely_benign | 0.3014 | benign | -0.063 | Destabilizing | 0.007 | N | 0.167 | neutral | N | 0.486742025 | None | None | N |
| N/L | 0.3085 | likely_benign | 0.3209 | benign | -0.108 | Destabilizing | 0.129 | N | 0.366 | neutral | None | None | None | None | N |
| N/M | 0.3821 | ambiguous | 0.3925 | ambiguous | 0.32 | Stabilizing | 0.836 | D | 0.325 | neutral | None | None | None | None | N |
| N/P | 0.3879 | ambiguous | 0.4044 | ambiguous | -0.3 | Destabilizing | 0.593 | D | 0.391 | neutral | None | None | None | None | N |
| N/Q | 0.3545 | ambiguous | 0.3675 | ambiguous | -0.581 | Destabilizing | 0.418 | N | 0.269 | neutral | None | None | None | None | N |
| N/R | 0.2755 | likely_benign | 0.2949 | benign | -0.046 | Destabilizing | 0.264 | N | 0.248 | neutral | None | None | None | None | N |
| N/S | 0.0702 | likely_benign | 0.0706 | benign | -0.55 | Destabilizing | 0.021 | N | 0.115 | neutral | N | 0.422978548 | None | None | N |
| N/T | 0.1148 | likely_benign | 0.1197 | benign | -0.329 | Destabilizing | 0.007 | N | 0.123 | neutral | N | 0.412377552 | None | None | N |
| N/V | 0.2734 | likely_benign | 0.2894 | benign | -0.3 | Destabilizing | 0.01 | N | 0.31 | neutral | None | None | None | None | N |
| N/W | 0.7849 | likely_pathogenic | 0.8053 | pathogenic | -0.581 | Destabilizing | 0.983 | D | 0.421 | neutral | None | None | None | None | N |
| N/Y | 0.2258 | likely_benign | 0.2461 | benign | -0.383 | Destabilizing | 0.921 | D | 0.339 | neutral | N | 0.477279089 | 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.