Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30193 | 90802;90803;90804 | chr2:178552323;178552322;178552321 | chr2:179417050;179417049;179417048 |
| N2AB | 28552 | 85879;85880;85881 | chr2:178552323;178552322;178552321 | chr2:179417050;179417049;179417048 |
| N2A | 27625 | 83098;83099;83100 | chr2:178552323;178552322;178552321 | chr2:179417050;179417049;179417048 |
| N2B | 21128 | 63607;63608;63609 | chr2:178552323;178552322;178552321 | chr2:179417050;179417049;179417048 |
| Novex-1 | 21253 | 63982;63983;63984 | chr2:178552323;178552322;178552321 | chr2:179417050;179417049;179417048 |
| Novex-2 | 21320 | 64183;64184;64185 | chr2:178552323;178552322;178552321 | chr2:179417050;179417049;179417048 |
| 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/H | rs1168404090  |
-1.048 | 0.059 | N | 0.386 | 0.091 | 0.195762928549 | gnomAD-2.1.1 | 4.13E-06 | None | None | None | None | N | None | 0 | 3E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| N/H | rs1168404090 |
-1.048 | 0.059 | N | 0.386 | 0.091 | 0.195762928549 | 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 | rs1168404090 |
-1.048 | 0.059 | N | 0.386 | 0.091 | 0.195762928549 | gnomAD-4.0.0 | 2.48845E-06 | None | None | None | None | N | None | 0 | 3.39213E-05 | None | 0 | 0 | None | 0 | 0 | 1.69846E-06 | 0 | 0 |
| N/K | rs779880537 |
-0.298 | 0.896 | N | 0.425 | 0.076 | 0.1749357433 | gnomAD-2.1.1 | 4.1E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.44E-05 | None | 0 | 0 | 0 |
| N/K | rs779880537 |
-0.298 | 0.896 | N | 0.425 | 0.076 | 0.1749357433 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| N/K | rs779880537 |
-0.298 | 0.896 | N | 0.425 | 0.076 | 0.1749357433 | gnomAD-4.0.0 | 2.57445E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.80141E-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 | 0.3093 | likely_benign | 0.3035 | benign | -0.85 | Destabilizing | 0.919 | D | 0.505 | neutral | None | None | None | None | N |
| N/C | 0.3897 | ambiguous | 0.391 | ambiguous | 0.145 | Stabilizing | 0.999 | D | 0.639 | neutral | None | None | None | None | N |
| N/D | 0.1898 | likely_benign | 0.1644 | benign | -0.562 | Destabilizing | 0.896 | D | 0.487 | neutral | N | 0.450245294 | None | None | N |
| N/E | 0.4532 | ambiguous | 0.4107 | ambiguous | -0.469 | Destabilizing | 0.919 | D | 0.445 | neutral | None | None | None | None | N |
| N/F | 0.6112 | likely_pathogenic | 0.5971 | pathogenic | -0.636 | Destabilizing | 0.988 | D | 0.599 | neutral | None | None | None | None | N |
| N/G | 0.2959 | likely_benign | 0.2965 | benign | -1.195 | Destabilizing | 0.015 | N | 0.216 | neutral | None | None | None | None | N |
| N/H | 0.1668 | likely_benign | 0.1598 | benign | -1.021 | Destabilizing | 0.059 | N | 0.386 | neutral | N | 0.456634075 | None | None | N |
| N/I | 0.4487 | ambiguous | 0.4235 | ambiguous | 0.027 | Stabilizing | 0.984 | D | 0.604 | neutral | N | 0.497148225 | None | None | N |
| N/K | 0.4494 | ambiguous | 0.4148 | ambiguous | -0.349 | Destabilizing | 0.896 | D | 0.425 | neutral | N | 0.491073196 | None | None | N |
| N/L | 0.3754 | ambiguous | 0.3707 | ambiguous | 0.027 | Stabilizing | 0.976 | D | 0.557 | neutral | None | None | None | None | N |
| N/M | 0.394 | ambiguous | 0.3994 | ambiguous | 0.567 | Stabilizing | 0.999 | D | 0.553 | neutral | None | None | None | None | N |
| N/P | 0.907 | likely_pathogenic | 0.8641 | pathogenic | -0.235 | Destabilizing | 0.996 | D | 0.531 | neutral | None | None | None | None | N |
| N/Q | 0.4082 | ambiguous | 0.3955 | ambiguous | -0.855 | Destabilizing | 0.976 | D | 0.419 | neutral | None | None | None | None | N |
| N/R | 0.5462 | ambiguous | 0.5065 | ambiguous | -0.418 | Destabilizing | 0.976 | D | 0.417 | neutral | None | None | None | None | N |
| N/S | 0.1329 | likely_benign | 0.1358 | benign | -0.893 | Destabilizing | 0.896 | D | 0.501 | neutral | N | 0.47850933 | None | None | N |
| N/T | 0.2027 | likely_benign | 0.2037 | benign | -0.609 | Destabilizing | 0.946 | D | 0.423 | neutral | N | 0.456634075 | None | None | N |
| N/V | 0.4182 | ambiguous | 0.3985 | ambiguous | -0.235 | Destabilizing | 0.988 | D | 0.58 | neutral | None | None | None | None | N |
| N/W | 0.8316 | likely_pathogenic | 0.8112 | pathogenic | -0.452 | Destabilizing | 0.999 | D | 0.644 | neutral | None | None | None | None | N |
| N/Y | 0.1809 | likely_benign | 0.1743 | benign | -0.256 | Destabilizing | 0.938 | D | 0.533 | neutral | N | 0.458786895 | 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.